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Gene(s) annotations

Available GET parameters:

add-all-data = 1 or 0 
add-region-databases = 1 or 0 
expand-pubmed-articles = 1 or 0 
add-main-data-points = 1 or 0 
add-varsome-user-entries = 1 or 0 
add-source-databases = all or none or fda-pharmacogenomic-biomarkers,gnomad-genes,unil-domino,dgi,exac-genes,cancer-gene-census,genomics-england-panelapp,cpic,pharmgkb,gene-pubmed-automap,ghr-genes,dbnsfp-genes,weill-cornell-medicine-pmkb,jax-ckb,cgd,aact,civic,clingen-gene 
allele-frequency-threshold = float 
add-ACMG-annotation = 1 or 0 
minimum-clinvar-stars = 0 or 1 or 2 or 3 or 4 
exclude-source-databases = fda-pharmacogenomic-biomarkers,gnomad-genes,unil-domino,dgi,exac-genes,cancer-gene-census,genomics-england-panelapp,cpic,pharmgkb,gene-pubmed-automap,ghr-genes,dbnsfp-genes,weill-cornell-medicine-pmkb,jax-ckb,cgd,aact,civic,clingen-gene 
use-canonical-transcript = 1 or 0 
override-transcript = str 
add-AMP-annotation = 1 or 0 
cancer-type = str 
tissue-type = str 
sex = Female or Male or f or m or female or male 
age = int 
ethnicity = AFR or ASJ or EAS or FIN or NFE or AMR or SAS or OTH 
annotation-mode = somatic or germline
GET /lookup/gene/BRAF/hg19?add-all-data=1
HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Cache-Control: max-age=300
Content-Type: application/json
ETag: "90cd2e5fdd36a7a0f5240aa7285d6c3f"
Vary: Accept

{
    "symbol": "BRAF",
    "gene_id": 2273,
    "description": "B-Raf proto-oncogene, serine/threonine kinase",
    "synonyms": [
        "BRAF1"
    ],
    "cgd": {
        "version": "15-Jun-2021",
        "pub_med_references": [
            16439621,
            16474404,
            17483702,
            17551924,
            18042262,
            18413255,
            18456719,
            19047498,
            19206169,
            20301303,
            20301365,
            20523244,
            21349766,
            21495173,
            22946697
        ],
        "condition": "Noonan syndrome 7; Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3",
        "inheritance": "AD",
        "age_group": "Pediatric",
        "intervention_categories": [
            "Cardiovascular",
            "Hematologic",
            "Oncologic"
        ],
        "comments": "The conditions may be frequently clinically recognized due to characteristic facial features as well as other manifestations",
        "intervention": null
    },
    "civic": {
        "version": "13-Jul-2021",
        "items": [
            {
                "variant": "V600E and Amplification",
                "variant_summary": "Amplification of BRAF V600E has been shown to confer resistance to MEK inhibitors. For more information on the V600 locus, see the V600E entry.",
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/14",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    21098728
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "E",
                "evidence_statement": "COLO201 and COLO206F cells harboring BRAF V600E mutations were cloned to be MEK inhibitor (AZD6244 [selumetinib]) resistant. The mechanism of this resistance was shown to be amplification of the BRAF V600E gene. BRAF V600E amplification was observed in 1/11 colorectal cancer patient samples evaluated, indicating this subclone (28% of cells) would be MEK inhibitor resistant.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/92",
                "drugs": [
                    "Selumetinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "AKAP9-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/184",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    15630448
                ],
                "clinical_significance": "Positive",
                "evidence_level": "B",
                "evidence_statement": "The AKAP9-BRAF fusion gene was found in 3/28 tumor samples of radiation-associated papillary thyroid carcinoma, and no samples of non-radiation associated papillary thyroid carcinoma. This fusion was associated with elevated BRAF kinase activity, similar to the V600E variant.",
                "evidence_type": "Diagnostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/462",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000356239.3",
                "disease": "Thyroid Gland Papillary Carcinoma",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "3969"
            },
            {
                "variant": "AGK-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/285",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    23890088
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "C",
                "evidence_statement": "BRAF fusion AGK-BRAF was associated with decreased sensitivity to vemurafenib and increased sensitivity to sorafenib in-vitro. A single patient with this fusion showed durable response to sorafenib.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/723",
                "drugs": [
                    "Sorafenib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000355413.4",
                "disease": "Melanoma ",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "AGK-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/285",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    23890088
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "A melanoma cell line with AGK-BRAF in-frame fusion showed decreased sensitivity towards Vemurafenib in comparison with BRAF mutated (V600E) cell lines.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/724",
                "drugs": [
                    "Vemurafenib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000355413.4",
                "disease": "Melanoma ",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "PAPSS1-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/286",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24345920
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "BRAF-fusion in \"pan-negative\" melanomas were identified in TCGA data. Cell-lines with PAPSS1-BRAF fusion were resistant to treatment with Vemurafenib.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/725",
                "drugs": [
                    "Vemurafenib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000265174.4",
                "disease": "Melanoma ",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "PAPSS1-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/286",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24345920
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "BRAF-fusion in \"pan-negative\" melanomas were identified in TCGA data. Cell-lines with a PAPSS1-BRAF fusion were resistant to treatment with Vemurafenib but sensitive to treatment with Trametinib. This fusion is believed to activate MAPK pathway signaling.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/726",
                "drugs": [
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000265174.4",
                "disease": "Melanoma ",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "TRIM24-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/287",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24345920
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "A TRIM24-BRAF fusion was identified in a single patient with metastatic melanoma that was \"pan-negative\" for driver mutations. A cell-line (293H) ectopically expressing the TRIM24-BRAF fusion was found to be sensitive to the MEK-inhibitor Trametinib.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/727",
                "drugs": [
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000343526.4",
                "disease": "Melanoma ",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    22169769
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "In this screen of 218 solid cancer cell lines, BRAF mutations were predictive of response to the MEK inhibitor GSK1120212. 26 of these cell lines had the BRAF V600E mutation, one cell line had a G469A mutation, one had G596R mutation and one had an unspecified mutation. Also of note, in RAF/RAS mutant colon cancer cell lines, co-occurring PIK3CA/PTEN mutations led to a cytostatic response rather than a cytotoxic response.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/936",
                "drugs": [
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Cancer",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "162"
            },
            {
                "variant": "WILD TYPE",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/426",
                "variant_origin": null,
                "pub_med_references": [
                    24947927
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "Phase I expansion and pharmacodynamic study of the oral MEK inhibitor RO4987655. Among 12 patients with melanoma BRAF wild type and non-NRAS or NRAS unknown status, seven patients experienced partial response (n=3) or stable disease (n=4). Authors conclude that RO4987655 has clinical activity in BRAF V600-wt (and BRAF V600E) melanoma. They suggest that other drugs such as immune check point inhibitors are preferred in BRAF wt melanoma, so the role of RO4987655 as a single agent is limited for BRAF WT patients with the possible exception of a small window of opportunity for combinations with MEK inhibitors after immunotherapy progression.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Does Not Support",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/995",
                "drugs": [
                    "MEK Inhibitor RO4987655"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Melanoma ",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "DEL 485-490",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/522",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26732095
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "Cells harboring in-frame deletions in BRAF in the L485-P490 amino acid region were found to be sensitive to the RAF dimer inhibitor LY3009120, but not sensitive to the BRAF-selective inhibitors vemurafenib or dabrafenib. These deletions were observed in KRAS wildtype pancreatic, ovarian, NSCLC, and thyroid cancers. In three cell lines H2405 (NSCLC with L485-P490>Y), BxPC-3 (pancreatic with V487-P492>A), and OV-90 (ovarian with N486-P490del), BRAF deletion–mediated MAPK activation was found to be sensitive to LY3009120 as evidenced by dose-dependent inhibition of phospho-MEK and ERK and cell growth inhibition with IC50 values of 0.04, 0.087, and 0.007 μmol/L in these three cell lines. LY3009120, but not vemurafenib, also inhibited tumor growth of both H2405 and BxPC-3 cells xenografted into mice.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1267",
                "drugs": [
                    "Pan-RAF Inhibitor LY3009120"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "162"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    25673558
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "B",
                "evidence_statement": "A quantitative synthesis was performed on nine studies comparing treatment of metastatic colorectal cancer with cetuximab or panitumumab and chemotherapy, versus chemotherapy alone, or with other targeted inhibitors. It was found that in the patient subgroup with BRAF mutation (V600E in the majority of cases), there were no benefits to overall survival, progression free survival, or overall response rate with addition of cetuximab or panitumumab to treatment. This conclusion held in the first line treatment as well as general treatment setting.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Does Not Support",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1404",
                "drugs": [
                    "Panitumumab",
                    "Cetuximab"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "TRIM24-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/287",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24345920
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "Foundation One NGS assay and targeted RNAseq identified PAPSS1-BRAF fusion in a melanoma sample. Further BRAF fusions (TRIM24-BRAF) were identified in TCGA and additional samples. Ectopic expression of engineered cDNA in 293H cells showed that trametinib led to reduced ERK1/2 phosphorylation in fusion positive cells whereas vemurafenib was not effective.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1416",
                "drugs": [
                    "Vemurafenib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000343526.4",
                "disease": "Cutaneous Melanoma ",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "8923"
            },
            {
                "variant": "PPFIBP2-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/617",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26072686
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "C",
                "evidence_statement": "Case report of a 47year old female patient with metastatic melanoma (BRAF, NRAS, KIT negative). A PPFIBP2-BRAF fusion was identified from DNA from a brain metastasis (inton 3 of PPFIBP2 fused to intron 10 of BRAF). Trametinib was introduced and anemia and ECOG status improved. Imaging revealed a 90% decrease in extracranial and 19% decrease in intracranial metastases with no new metastases and no progressing sites at 6 weeks. Trametinib was stopped and pembrolizumab introduced at this time. Progressive disease was noted after 5 cycles of pembrolizumab but re-introduction of trametinib did not show an effect.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1570",
                "drugs": [
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000299492.4",
                "disease": "Cutaneous Melanoma ",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "8923"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26072686
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "C",
                "evidence_statement": "A 65 yr old male patient with metastatic acral lentiginous melanoma (BRAF, NRAS, KIT negative) was found to harbor a KIAA1549-BRAF (intron 15-intron 8) fusion in a subcutaneous metastasis sample after disease progression. Trametinib was started and fatigue and ECOG status improved but imaging revealed slight disease progression after 2 weeks (15 sites measurable, 9 stable, 6 progressive). No new metastases were identified. The patient was switched to pembrolizumab and major disease progression was noted.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1571",
                "drugs": [
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Cutaneous Melanoma ",
                "rating": "1",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "8923"
            },
            {
                "variant": "BRAF-CUL1",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/656",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26324360
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "C",
                "evidence_statement": "One patient with low-grade serous ovarian cancer had an in-frame fusion between the BRAF kinase domain and CUL1 identified by panel sequencing (MSK-IMPACT), with expression confirmed by whole-transcriptome sequencing. This patient with metastatic disease after treatment with carboplatin and paclitaxel, was enrolled onto a study of paclitaxel in combination with an oral MEK inhibitor and achieved a CR. She continued to receive therapy for 7 months, until discontinuation because of the development of pneumonitis. At publication, sustained CR had lasted > 18 months.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1662",
                "drugs": [
                    "Mitogen-Activated Protein Kinase Kinase Inhibitor"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Ovarian Serous Adenocarcinoma",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "0050933"
            },
            {
                "variant": "ZKSCAN1-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/657",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    26314551
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "C",
                "evidence_statement": "Analysis of BRAF fusions in 20,573 tumors, across 12 distinct tumor types. BRAF fusions were identified in 55 (0.3%) patients and enriched in spitzoid melanoma, pilocytic astrocytomas, pancreatic acinar and papillary thyroid cancers. Clinical data were available for two patients. Among them one 46-year old woman with spitzoid melanoma that  harbored  a ZKSCAN1-BRAF fusion responded to treatment with the MEK inhibitor trametinib. Subcutaneous  tumor  nodules  exhibited  clinical responses within 14 days of therapy, and her dominant bulky right lung metastases showed significant response by Day 45. Subsequent robotic-assisted lobectomy was able to remove the previously unresectable tumor with clean surgical margins.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1663",
                "drugs": [
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000426572.1",
                "disease": "Melanoma ",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24422672
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "C",
                "evidence_statement": "A patient with a malignant spindle cell tumor of the chest wall treated as a soft tissue sarcoma was identified to harbor a KIAA1549-BRAF fusion. This patient responded to treatment with the pan-kinase inhibitor sorafenib in combination with bevacizumab and temsirolimus, achieving stable disease after 2 cycles extending into 11 cycles at which time she expired due to co-morbidities (acute myocardial infarction, hypotension). Of note, sequencing of 236 cancer-related genes identified CDKN2A A68fs*51, SUFU E283fs*3, MAP3K1 N325fs*3 and homozygous deletion of PTEN as well.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1664",
                "drugs": [
                    "Bevacizumab",
                    "Temsirolimus",
                    "Sorafenib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Sarcoma",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1115"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    22586653
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "A cohort of patient-derived xenografts (PDX) from 85 patients with metastatic colorectal cancer was created. PDX were treated with cetuximab and mechanisms of resistance investigated. None of the xenografts harboring KRAS (N=18), NRAS (N=7) or BRAF (N=3) mutations showed a response to cetuximab whereas 1 out of 4 xenografts with a PIK3CA mutation responded to cetuximab.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/1704",
                "drugs": [
                    "Cetuximab"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    20619739
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "This was a retrospective study of 350 patients with metastatic, chemotherapy refractory colorectal cancer treated with cetuximab + chemotherapy who had individual response data and whose tumors were KRAS wildtype and BRAF assessable. Patients harboring BRAF mutations (total n=24, V600E n=23, D594G n=1) had a lower response rate than did patients with wildtype BRAF (n=326; 2/24 [4.3%] vs 124/326 [38%], OR: 0.15, p=0.0012). BRAF mutant patients also experienced significantly lower disease control rate, PFS, and OS (median 26 vs 54 weeks, HR: 3.03 p<0.0001) in response to cetuximab treatment. In multivariate analysis, the significant associations between BRAF mutations and poor outcome were confirmed. The authors noted that two responders had the following genotypes: V600E mutation in low copy number, and BRAF D594G, and suggested that mutation status of BRAF is more informative than those of NRAS and PIK3CA exon 20 for predicting cetuximab response (second only to KRAS).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2187",
                "drugs": [
                    "Cetuximab",
                    "Chemotherapy"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Amplification",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1269",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    25673644
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "C",
                "evidence_statement": "Paired pre-treatment and post-progression tumor biopsies from BRAF-mutant CRC patients treated with RAF inhibitor combinations were analyzed. Alterations in MAPK pathway genes were found in resistant tumors not present in matched pre-treatment tumors, including KRAS amplification, BRAF amplification, and a MEK1 mutation.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/2929",
                "drugs": [
                    "Dabrafenib",
                    "Panitumumab"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    19603024
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "This was a retrospective clinical study of 168 metastatic colorectal cancer patients who received first line chemotherapy (made up of 5-fluorouracil (5-FU) only, 5-FU + oxaliplatin, 5-FU + irinotecan, or 5-FU + oxaliplatin + irinotecan) alone or with monoclonal antibodies (bevacizumab or cetuximab). It assessed the relationship between BRAF mutation status in primary tumors and post treatment PFS. Of 168 patients, 155 had wildtype BRAF and 13 had mutations in BRAF—including V600E and D594K. The study found that patients harboring a BRAF mutation had a significantly worse outcome than patients expressing wildtype BRAF, regardless of first line chemotherapy regimen or use of monoclonal antibody treatment (Median PFS: 4.3 and 12.5 months, respectively; p <.0001).",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/6302",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    19603024
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "This was a retrospective clinical study of 100 metastatic colorectal cancer patients who received FOLFOX (oxaliplatin + 5-fluorouracil + folinic acid) first-line therapy alone or with monoclonal antibodies (bevacizumab or cetuximab). It assessed the relationship between BRAF mutation status in primary tumors and response to oxaliplatin-based first-line therapy, as measured by post treatment PFS. Of 100 patients, 94 had wildtype BRAF and 6 had mutations in BRAF—including V600E and D594K. The study found that patients harboring a BRAF mutation were significantly more resistant to oxaliplatin-based first-line therapy than patients with wildtype BRAF (Median PFS: 5.0 and 11. 7 months, respectively; p < .0001).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/6303",
                "drugs": [
                    "Oxaliplatin"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    19603024
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "This was a retrospective clinical study of 44 metastatic colorectal cancer patients who received FOLFIRI (5-Fluorouacil + Folinic acid + irinotecan) first-line therapy alone or with bevacizumab. It assessed the relationship between BRAF mutation status in primary tumors and response to irinotecan-based first line therapy, as measured by PFS. Of the 44 patients, 39 had wildtype BRAF and 5 had mutations in BRAF—including V600E and D594K. The study found that patients harboring a BRAF mutation were significantly more resistant to irinotecan-based first-line therapy than patients with wildtype BRAF (Median PFS: 3.5 and 12.8 months, respectively; p = .006).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/6304",
                "drugs": [
                    "Irinotecan"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    19603024
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "This was a retrospective clinical study of 97 metastatic colorectal cancer patients who received bevacizumab in conjunction with first-line chemotherapy (composed of 5-fluorouracil (5-FU) only, 5-FU + oxaliplatin, 5-FU + irinotecan, or 5-FU + oxaliplatin + irinotecan). It assessed the relationship between BRAF mutation status in primary tumors and response to bevacizumab-containing first line chemotherapy, as measured by PFS. Of the 97 patients,89 had wildtype BRAF and 8 had mutations in BRAF—including V600E and D594K. The study found that patients harboring a BRAF mutation were significantly more resistant to bevacizumab-containing first-line chemotherapy than patients with wildtype BRAF (Median PFS: 4.2 and 12.5 months, respectively; p < .0001).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/6305",
                "drugs": [
                    "Bevacizumab"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    19603024
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "B",
                "evidence_statement": "This was a retrospective clinical study of 92 metastatic colorectal cancer patients who received cetuximab in conjunction with salvage chemotherapy (refractory to at least one line of treatment). Salvage chemotherapy was composed of 5-fluorouracil (5-FU) only, 5-FU + oxaliplatin, 5-FU + irinotecan, or 5-FU + oxaliplatin + irinotecan. The study assessed the relationship between BRAF mutation status in primary tumors and response to cetuximab-containing salvage chemotherapy, as measured by PFS. Of the 92 patients, 83 had wildtype BRAF and 9 had mutations in BRAF—including V600E and D594K. The study found that patients harboring a BRAF mutation were significantly more resistant to cetuximab-containing salvage chemotherapy than patients with wildtype BRAF (Median PFS: 2.0 and 3.9, respectively; p = .0005).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/6306",
                "drugs": [
                    "Cetuximab"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    19603024
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "This was a retrospective clinical study of 168 metastatic colorectal cancer patients who received first line chemotherapy (made up of 5-fluorouracil (5-FU) only, 5-FU + oxaliplatin, 5-FU + irinotecan, or 5-FU + oxaliplatin + irinotecan) alone or with monoclonal antibodies (bevacizumab or cetuximab). It assessed the relationship between BRAF mutation status in primary tumors and post treatment OS. Of 168 patients, 155 had wildtype BRAF and 13 had mutations in BRAF—including V600E and D594K. The study found that patients harboring a BRAF mutation had a significantly worse outcome than patients expressing wildtype BRAF, regardless of first line chemotherapy regimen or use of monoclonal antibody treatment (Median OS: 10.9 and 40.5 months, respectively; p <.0001).",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/6307",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    23817572
                ],
                "clinical_significance": "Positive",
                "evidence_level": "B",
                "evidence_statement": "Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Whole-genome sequencing of normal (blood) and tumor samples (n=96) was performed along with corresponding RNA-Seq (n=73) and mate-pair (MP) sequencing (n=68).  Several known events activating the MAPK pathway were identified with KIAA1549-BRAF fusion being the most frequent variants (70 of 96 cases, 73%). Importantly, all but one of the cerebellar PA harbored a BRAF fusion (47 of 48 samples, 98%) with this one exception having a KRAS alteration.",
                "evidence_type": "Diagnostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7148",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Pilocytic Astrocytoma",
                "rating": "5",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "4851"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    21641636
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "In the Medical Research Council (MRC) COIN trial, ISRCTN27286448, patients who presented with advanced colorectal cancer were randomly assigned to chemotherapy (oxaliplatin and fluoropyrimidine; arm A), or chemotherapy plus cetuximab (arm B). Median overall survival was found to differ by mutation, regardless of treatment. Median overall survival was 8.8 months (IQR 4.5-27) for patients with BRAF variants, 14.4 months (IQR 8.5-24.0) for patients with KRAS variants, and 20.1 months (IQR 11.5-31.7) for wildtype patients. BRAF mutations were found in 102/1291 samples (7.90%), and of these, 12 were D594G and 90 V600E.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7158",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "Mutation",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/399",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    24112392
                ],
                "clinical_significance": "Poor Outcome",
                "evidence_level": "B",
                "evidence_statement": "A meta analysis was performed using data from 21 published studies (n = 9885 patients) to assess prognostic value of BRAF mutations in colorectal cancer. When evaluating 14 studies (n = 7778 patients), the odds ratio (OR) of a proximal lesion, which is associated with greater mortality in colon cancer, was increased for patients with BRAF mutations (OR 5.222, 95% CI 3.801–7.174, P < 0.001). When evaluating 4 studies (n = 1526 patients), the odds ratio of T4 tumors, which indicates tumor growth past bowel lining, was increased for patients with BRAF mutations (OR 1.761, 95% CI 1.164–2.663, P = 0.007). When evaluating 8 studies (n = 2786 patients), the odds ratio of poor tumor differentiation was increased in patients with BRAF mutations (OR 3.816, 95% CI 2.714–5.365, P < 0.001). These results support that BRAF mutations indicate poor prognosis for patients with colorectal cancer.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7159",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Colorectal Cancer",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "9256"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    29948154
                ],
                "clinical_significance": "Better Outcome",
                "evidence_level": "B",
                "evidence_statement": "KIAA1549-BRAF fusion was identified in 87 of 272 patients with PLGGs using Fluorescence In situ hybridization (FISH) analysis. This mutation was strongly associated with a greater progression-free survival (p=0.0017) and overall survival (p=0.0029) [fusion-positive (n=64) vs fusion-negative (n=141)].",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7193",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Childhood Low-Grade Glioma",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "0080830"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    29156677
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "This preclinical study proposed to use a combination therapy of an MEK inhibitor (e.g. trametinib) and an mTOR inhibitor (e.g. everolimus) for the treatment of pediatric low-grade gliomas (PLGGs) with BRAF fusions to evade acquired resistance to MEK targeted therapy. The PI3K/Akt/mTOR pathway was identified as a resistance mechanism to MEKi treatment based on RNASeq and GSEA analysis. Using flank xenograft model, mice were injected with NIH3T3 cells expressing KIAA1549-BRAF fusions and treated daily with trametinib, everolimus either alone or combined with each other (n=~10 for each treatment arm). Combination therapy (Trametinib 1mg/kg+ Everolimus 10mg/kg) resulted in better suppression in tumor growth than single-agent treatment. Similarly, combination treatment strongly reduced colony formation as well as pERK and pS6 levels, showing on target effects.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7199",
                "drugs": [
                    "Everolimus",
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Childhood Low-Grade Glioma",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "0080830"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    21610142
                ],
                "clinical_significance": "Better Outcome",
                "evidence_level": "B",
                "evidence_statement": "Hawkins et al. (2011) retrospectively studied 70 consecutive patient with incompletely resected pediatric low-grade astrocytomas (PLGA). KIAA1549-BRAF fusion was identified in 60% of cases in this cohort. Multi-variant analysis suggested that KIAA1549-BRAF fusion was the most significant favorable prognosis factor in incompletely resected PLGA and was independent of location, pathology, and age. Five-year PFS of fusion positive and fusion negative patients were 61% +/- 8% and 18% +/- 8% (P=0.0004), respectively. These results suggested that KIAA1549-BRAF fusion confers a less aggressive clinical phenotype on PLGA and may explain their tendency to growth arrest.",
                "evidence_type": "Prognostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7200",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Childhood Low-Grade Glioma",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "0080830"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    18974108
                ],
                "clinical_significance": "Positive",
                "evidence_level": "B",
                "evidence_statement": "This study identified a novel rearrangement event between the uncharacterized gene KIAA-1549 and BRAF in 66% (29 of 44) of pilocytic astrocytoma but not in 244 higher-grade astrocytomas that were evaluated. An in vitro study further showed that this fusion gene lacks the N-terminal BRAF auto-regulatory domain, leading to constitutive activation of BRAF.",
                "evidence_type": "Diagnostic",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7319",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Pilocytic Astrocytoma",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "4851"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    18974108
                ],
                "clinical_significance": "Gain of Function",
                "evidence_level": "D",
                "evidence_statement": "This study identified a novel rearrangement event between the uncharacterized gene KIAA-1549 and BRAF in 66% (29 of 44) of pilocytic astrocytomas. The fusion gene was shown to delete the N-terminal BRAF auto-regulatory domain which in vitro assays indicated leads to constitutive activation of BRAF. Cos7 cells were transfected with two isoforms of KIAA1549-BRAF (both exon 16:exon 9), BRAF V600E, or wildtype BRAF and evaluated activity via BRAF kinase assay. Both fusion isoforms showed similar or higher kinase activity than V600E transfected cells. NIH3T3 cells transfected with V600E or the short fusion isoform also demonstrated anchorage-independent growth in soft agarose.",
                "evidence_type": "Functional",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7337",
                "drugs": null,
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Pilocytic Astrocytoma",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "4851"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    28002790
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "D",
                "evidence_statement": "A pilocytic astrocytoma (PA) cell line named DKFZ-BT66 was generated from a 2-year old patient with the disease. Expression of KIAA1549-BRAF fusion in this cell line was identified. Treatment with sorafenib or vemurafenib resulted in paradoxical activation of MAPK/ERK as seen by increased pERK in western blots. Authors note that their observation aligns with results from a phase II clinical trial wherein PA patients experienced tumor growth under sorafenib treatment induced by paradoxical MAPK activation.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7402",
                "drugs": [
                    "Vemurafenib",
                    "Sorafenib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Childhood Pilocytic Astrocytoma",
                "rating": "2",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "6812"
            },
            {
                "variant": "Amplification",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/1269",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    25452114
                ],
                "clinical_significance": "Resistance",
                "evidence_level": "C",
                "evidence_statement": "In a retrospective study, authors analyzed BRAF V600 mutated melanoma metastases derived from 10 patients treated with the combination of dabrafenib and trametinib for resistance mechanisms and genetic correlates of response. An acquired resistance mechanism activating the MAPK pathway was identified in 9 tumors; BRAF amplification (n=4), MEK1/2 mutation (n=3), NRAS mutations (n=3). Among them, mutual exclusive alterations were BRAF amplification (n=4), MEK2 C125S (n=1), and NRAS Q61K (n=2).",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/7677",
                "drugs": [
                    "Trametinib",
                    "Dabrafenib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000288602.6",
                "disease": "Melanoma ",
                "rating": "4",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "1909"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    28002790
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "In this preclinical experiment, a pediatric pilocytic astrocytoma cell line (DKFZ-BT66) harboring KIAA1549:BRAF fusion was generated from a two year old patient. Treatment with selumetinib resulted in a significant decrease in viable cell count at concentrations of 10µM. Treatment with selumetinib fully abrogated ERK activation at concentrations of 0.1μM for as long as 120 hours. Authors note that inhibitory effects were more pronounced in cells treated with trametinib than cells treated with selumetinib.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/8943",
                "drugs": [
                    "Selumetinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Childhood Pilocytic Astrocytoma",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "6812"
            },
            {
                "variant": "KIAA1549-BRAF",
                "variant_summary": null,
                "variant_civic_url": "https://civic.genome.wustl.edu/links/variants/618",
                "variant_origin": "Somatic",
                "pub_med_references": [
                    28002790
                ],
                "clinical_significance": "Sensitivity/Response",
                "evidence_level": "D",
                "evidence_statement": "In this preclinical experiment, a pediatric pilocytic astrocytoma cell line (DKFZ-BT66) harboring KIAA1549:BRAF fusion was generated from a two year old patient. Treatment with trametinib resulted in a significant decrease in viable cell count at concentrations of 100nM and above. Trametinib also fully abrogated ERK activation at concentrations of 0.1μM for as long as 120 hours. Authors note that inhibitory effects were more pronounced in cells treated with trametinib than cells treated with selumetinib.",
                "evidence_type": "Predictive",
                "evidence_status": "accepted",
                "evidence_direction": "Supports",
                "evidence_civic_url": "https://civic.genome.wustl.edu/links/evidence_items/8944",
                "drugs": [
                    "Trametinib"
                ],
                "transcripts": null,
                "representative_transcript": "ENST00000440172.1",
                "disease": "Childhood Pilocytic Astrocytoma",
                "rating": "3",
                "gene": "BRAF",
                "gene_civic_url": "https://civic.genome.wustl.edu/links/genes/5",
                "entrez_id": "673",
                "doid": "6812"
            }
        ]
    },
    "dbnsfp_genes": {
        "version": "4.1",
        "items": [
            {
                "kegg": {
                    "id": [
                        "hsa04010",
                        "hsa04012",
                        "hsa04150",
                        "hsa04510",
                        "hsa04650",
                        "hsa04720",
                        "hsa04730",
                        "hsa04810",
                        "hsa04910",
                        "hsa05210",
                        "hsa05211",
                        "hsa05212",
                        "hsa05213",
                        "hsa05214",
                        "hsa05215",
                        "hsa05216",
                        "hsa05218",
                        "hsa05219",
                        "hsa05220",
                        "hsa05221",
                        "hsa05223"
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                    "full": [
                        "MAPK signaling pathway",
                        "ErbB signaling pathway",
                        "mTOR signaling pathway",
                        "Focal adhesion",
                        "Natural killer cell mediated cytotoxicity",
                        "Long-term potentiation",
                        "Long-term depression",
                        "Regulation of actin cytoskeleton",
                        "Insulin signaling pathway",
                        "Colorectal cancer",
                        "Renal cell carcinoma",
                        "Pancreatic cancer",
                        "Endometrial cancer",
                        "Glioma",
                        "Prostate cancer",
                        "Thyroid cancer",
                        "Melanoma",
                        "Bladder cancer",
                        "Chronic myeloid leukemia",
                        "Acute myeloid leukemia",
                        "Non-small cell lung cancer"
                    ]
                },
                "expressions_rpkm": null,
                "gene_symbol": "BRAF",
                "p_hi": 0.9540000000000001,
                "gdi": 63.21,
                "gdi_phred": 1.627,
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                "hipred": true,
                "hipred_score": 0.8434,
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                "rvis_evs": -0.6000000000000001,
                "rvis_evs_percentile": "17.75%",
                "essential_gene": "Essential",
                "essential_crispr": "Non essential",
                "essential_crispr2": "Context-specific essential",
                "essential_mutagenesis": "KBM7-specific essential",
                "known_recessive_info": null,
                "indispensability_score": 0.8531000000000001,
                "indispensability_pred": "Essential",
                "go": {
                    "molecular_function": [
                        "protein kinase activity",
                        "protein serine/threonine kinase activity",
                        "MAP kinase kinase kinase activity",
                        "calcium ion binding",
                        "protein binding",
                        "ATP binding",
                        "small GTPase binding",
                        "mitogen-activated protein kinase kinase binding",
                        "identical protein binding",
                        "protein heterodimerization activity"
                    ],
                    "biological_process": [
                        "MAPK cascade",
                        "activation of MAPKK activity",
                        "myeloid progenitor cell differentiation",
                        "protein phosphorylation",
                        "visual learning",
                        "animal organ morphogenesis",
                        "positive regulation of gene expression",
                        "negative regulation of fibroblast migration",
                        "positive regulation of glucose transmembrane transport",
                        "thyroid gland development",
                        "positive regulation of peptidyl-serine phosphorylation",
                        "somatic stem cell population maintenance",
                        "cellular response to drug",
                        "regulation of cell population proliferation",
                        "negative regulation of apoptotic process",
                        "CD4-positive, alpha-beta T cell differentiation",
                        "CD4-positive or CD8-positive, alpha-beta T cell lineage commitment",
                        "response to peptide hormone",
                        "negative regulation of neuron apoptotic process",
                        "regulation of T cell differentiation",
                        "thymus development",
                        "positive regulation of axon regeneration",
                        "positive regulation of axonogenesis",
                        "T cell receptor signaling pathway",
                        "protein heterooligomerization",
                        "positive regulation of stress fiber assembly",
                        "response to cAMP",
                        "long-term synaptic potentiation",
                        "head morphogenesis",
                        "face development",
                        "positive regulation of ERK1 and ERK2 cascade",
                        "trehalose metabolism in response to stress",
                        "cellular response to calcium ion",
                        "establishment of protein localization to membrane",
                        "positive regulation of substrate adhesion-dependent cell spreading",
                        "cellular response to nerve growth factor stimulus",
                        "negative regulation of synaptic vesicle exocytosis",
                        "negative regulation of endothelial cell apoptotic process"
                    ],
                    "cellular_component": [
                        "nucleus",
                        "mitochondrion",
                        "cytosol",
                        "plasma membrane",
                        "neuron projection",
                        "intracellular membrane-bounded organelle",
                        "cell body"
                    ]
                },
                "pathway_biocarta": [
                    "MAPKinase Signaling Pathway"
                ],
                "pathway_consensuspathdb": [
                    "Non-small cell lung cancer - Homo sapiens (human)",
                    "Chronic myeloid leukemia - Homo sapiens (human)",
                    "Gastric cancer - Homo sapiens (human)",
                    "Focal adhesion - Homo sapiens (human)",
                    "mTOR signaling pathway - Homo sapiens (human)",
                    "Renal cell carcinoma - Homo sapiens (human)",
                    "Long-term potentiation - Homo sapiens (human)",
                    "Neurotrophin signaling pathway - Homo sapiens (human)",
                    "Serotonergic synapse - Homo sapiens (human)",
                    "Melanoma - Homo sapiens (human)",
                    "Cushing,s syndrome - Homo sapiens (human)",
                    "Bladder cancer - Homo sapiens (human)",
                    "Long-term depression - Homo sapiens (human)",
                    "Acute myeloid leukemia - Homo sapiens (human)",
                    "Breast cancer - Homo sapiens (human)",
                    "ErbB signaling pathway - Homo sapiens (human)",
                    "FoxO signaling pathway - Homo sapiens (human)",
                    "Chemokine signaling pathway - Homo sapiens (human)",
                    "Regulation of actin cytoskeleton - Homo sapiens (human)",
                    "Hepatocellular carcinoma - Homo sapiens (human)",
                    "Glioma - Homo sapiens (human)",
                    "Prostate cancer - Homo sapiens (human)",
                    "cAMP signaling pathway - Homo sapiens (human)",
                    "Vascular smooth muscle contraction - Homo sapiens (human)",
                    "Rap1 signaling pathway - Homo sapiens (human)",
                    "MAPK signaling pathway - Homo sapiens (human)",
                    "Natural killer cell mediated cytotoxicity - Homo sapiens (human)",
                    "Proteoglycans in cancer - Homo sapiens (human)",
                    "Pathways in cancer - Homo sapiens (human)",
                    "Hepatitis C - Homo sapiens (human)",
                    "Thyroid cancer - Homo sapiens (human)",
                    "Pancreatic cancer - Homo sapiens (human)",
                    "Endometrial cancer - Homo sapiens (human)",
                    "Colorectal cancer - Homo sapiens (human)",
                    "Alcoholism - Homo sapiens (human)",
                    "Insulin signaling pathway - Homo sapiens (human)",
                    "Progesterone-mediated oocyte maturation - Homo sapiens (human)",
                    "Pathway_PA165959425",
                    "Sorafenib Pharmacodynamics",
                    "Vemurafenib Pathway, Pharmacodynamics",
                    "update your name in edit mode",
                    "Intracellular Signalling Through Adenosine Receptor A2b and Adenosine",
                    "Intracellular Signalling Through Adenosine Receptor A2a and Adenosine",
                    "EGF-Core",
                    "Integrin-mediated Cell Adhesion",
                    "Human Thyroid Stimulating Hormone (TSH) signaling pathway",
                    "Signaling Pathways in Glioblastoma",
                    "B Cell Receptor Signaling Pathway",
                    "Corticotropin-releasing hormone signaling pathway",
                    "Integrated Lung Cancer Pathway",
                    "Polycystic Kidney Disease Pathway",
                    "Bladder Cancer",
                    "Focal Adhesion",
                    "BDNF-TrkB Signaling",
                    "MAPK Signaling Pathway",
                    "Chemokine signaling pathway",
                    "ESC Pluripotency Pathways",
                    "Endometrial cancer",
                    "MET in type 1 papillary renal cell carcinoma",
                    "Chromosomal and microsatellite instability in colorectal cancer",
                    "MAPK Cascade",
                    "EGF-EGFR Signaling Pathway",
                    "Regulation of Actin Cytoskeleton",
                    "Senescence and Autophagy in Cancer",
                    "Estrogen signaling pathway",
                    "Serotonin HTR1 Group and FOS Pathway",
                    "Serotonin Receptor 4-6-7 and NR3C Signaling",
                    "Negative regulation of FGFR2 signaling",
                    "Signaling by FGFR2",
                    "MAP2K and MAPK activation",
                    "RAF activation",
                    "Disease",
                    "Negative regulation of FGFR3 signaling",
                    "Signaling by FGFR3",
                    "Signal Transduction",
                    "Negative regulation of FGFR4 signaling",
                    "Signaling by FGFR4",
                    "Signaling by FGFR",
                    "Spry regulation of FGF signaling",
                    "B cell receptor signaling",
                    "GPCR Adenosine A2A receptor",
                    "GPCR GroupI metabotropic glutamate receptor",
                    "GPCR signaling-G alpha q",
                    "CD4 T cell receptor signaling-ERK cascade",
                    "ARMS-mediated activation",
                    "IGF signaling",
                    "FGF",
                    "Negative feedback regulation of MAPK pathway",
                    "Neuronal System",
                    "GPCR signaling-G alpha s Epac and ERK",
                    "Signalling to p38 via RIT and RIN",
                    "IL-7 signaling",
                    "GPCR signaling-G alpha s PKA and ERK",
                    "Frs2-mediated activation",
                    "Prolonged ERK activation events",
                    "Signalling to ERKs",
                    "Signaling by NTRK1 (TRKA)",
                    "Integrin",
                    "Signaling by NTRKs",
                    "EGFR1",
                    "Ras signaling in the CD4+ TCR pathway",
                    "ErbB1 downstream signaling",
                    "Negative regulation of MAPK pathway",
                    "RAF/MAP kinase cascade",
                    "MAPK1/MAPK3 signaling",
                    "MAPK family signaling cascades",
                    "JAK STAT pathway and regulation",
                    "NGF",
                    "EPO signaling",
                    "Neurotransmitter receptors and postsynaptic signal transmission",
                    "Transmission across Chemical Synapses",
                    "CREB phosphorylation through the activation of Ras",
                    "Post NMDA receptor activation events",
                    "Activation of NMDA receptor and postsynaptic events",
                    "Signaling by Receptor Tyrosine Kinases",
                    "Signaling by RAS mutants",
                    "VEGF",
                    "Signaling by high-kinase activity BRAF mutants",
                    "Signaling by moderate kinase activity BRAF mutants",
                    "Paradoxical activation of RAF signaling by kinase inactive BRAF",
                    "mTOR signaling pathway",
                    "Signaling by BRAF and RAF fusions",
                    "Oncogenic MAPK signaling",
                    "Diseases of signal transduction",
                    "CDC42 signaling events",
                    "Downstream signaling in naï",
                    "ve CD8+ T cells",
                    "Signaling events mediated by focal adhesion kinase",
                    "PDGFR-beta signaling pathway",
                    "Trk receptor signaling mediated by the MAPK pathway",
                    "Signaling events mediated by VEGFR1 and VEGFR2",
                    "Negative regulation of FGFR1 signaling",
                    "Signaling by FGFR1",
                    "CD4 T cell receptor signaling"
                ],
                "expression_gnf_atlas": [
                    "pons",
                    "ciliary ganglion",
                    "dorsal root ganglion",
                    "atrioventricular node",
                    "superior cervical ganglion",
                    "trigeminal ganglion",
                    "testis"
                ],
                "expression_egenetics": [
                    "amygdala",
                    "spleen",
                    "liver",
                    "stomach",
                    "germinal center",
                    "testis",
                    "brain",
                    "lung",
                    "thyroid",
                    "whole body",
                    "frontal lobe",
                    "head and neck",
                    "placenta",
                    "islets of Langerhans"
                ],
                "pathway_uniprot": null,
                "function_description": "Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway. ",
                "disease_description": [
                    "Defects in BRAF are found in a wide range of cancers. ",
                    "Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. ",
                    "Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. ",
                    "Familial non-Hodgkin lymphoma (NHL) [MIM:605027]: Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss. ",
                    "Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. ",
                    "Noonan syndrome 7 (NS7) [MIM:613706]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
                    "LEOPARD syndrome 3 (LPRD3) [MIM:613707]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. ",
                    "A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. "
                ],
                "gene_damage_prediction": {
                    "primary_immunodeficiency": {
                        "autosomalrecessive": "Medium",
                        "all": "Medium",
                        "autosomaldominant": "Medium"
                    },
                    "mendelian": {
                        "autosomalrecessive": "Medium",
                        "all": "Medium",
                        "autosomaldominant": "Medium"
                    },
                    "all": "Medium",
                    "cancer": {
                        "recessive": "Medium",
                        "all": "Medium",
                        "dominant": "Medium"
                    }
                }
            }
        ]
    },
    "exac_genes": {
        "version": "18-Sep-2018",
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                        "biliary cholangitis": [
                            32308090
                        ],
                        "hepatitis": [
                            32308090
                        ],
                        "AIH": [
                            32308090
                        ],
                        "GN": [
                            34261040
                        ],
                        "autoimmune hepatitis": [
                            32308090
                        ],
                        "PBC": [
                            32308090
                        ],
                        "primary biliary cholangitis": [
                            32308090
                        ],
                        "acinar cell carcinoma": [
                            32358589
                        ],
                        "pancreatic ductal adenocarcinoma": [
                            32306207
                        ],
                        "histiocytic neoplasm": [
                            32305313
                        ],
                        "multi system disorder": [
                            32305313
                        ],
                        "ECD": [
                            32305313
                        ],
                        "Erdheim-Chester disease": [
                            32305313
                        ],
                        "UM": [
                            32305056
                        ],
                        "melanoma brain metastasis": [
                            32301010
                        ],
                        "AR": [
                            32297439
                        ],
                        "lymphocytic thyroiditis": [
                            32297204
                        ],
                        "HCLv": [
                            32297104
                        ],
                        "HCLc": [
                            32297104
                        ],
                        "non-squamous lung carcinoma": [
                            32294880
                        ],
                        "AOSD": [
                            32293049
                        ],
                        "Still'S disease": [
                            32293049
                        ],
                        "fever": [
                            32293049
                        ],
                        "nodular fasciitis": [
                            32291398
                        ],
                        "nodular fasciitis like stroma": [
                            32291398
                        ],
                        "liver involvement": [
                            32278676
                        ],
                        "primary lung adenocarcinoma": [
                            32269691
                        ],
                        "lung tumor": [
                            32269074
                        ],
                        "follicular cell derived thyroid neoplasia": [
                            32265839
                        ],
                        "HCL": [
                            32257795
                        ],
                        "pancytopenia": [
                            32257795
                        ],
                        "exCCA": [
                            32256810
                        ],
                        "conjunctival melanoma": [
                            33383577
                        ],
                        "ICCA": [
                            32256810
                        ],
                        "CCA": [
                            32256810,
                            32315234
                        ],
                        "deep hemispheric lesion": [
                            32242226
                        ],
                        "midline PLGG": [
                            32242226
                        ],
                        "SS": [
                            32238877
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                        "xenograft tumor": [
                            32269074
                        ],
                        "renal malignancy": [
                            32238401
                        ],
                        "Wilm tumor": [
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                        ],
                        "HS": [
                            32212266
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                        "MEC": [
                            32129900
                        ],
                        "mucoepidermoid carcinoma": [
                            32129900
                        ],
                        "AIMS": [
                            32129900
                        ],
                        "desmoplastic melanoma": [
                            32123303
                        ],
                        "FAP": [
                            32099073
                        ],
                        "DTF": [
                            32099073
                        ],
                        "pyrexia": [
                            32293049,
                            32534646
                        ],
                        "fibromatosis": [
                            32099073
                        ],
                        "TSAs": [
                            32092099
                        ],
                        "rhabdoid": [
                            32083567
                        ],
                        "medullary carcinoma": [
                            32083567
                        ],
                        "stage III CC": [
                            32083567
                        ],
                        "CC": [
                            32083567,
                            32620519
                        ],
                        "salivary gland carcinoma": [
                            32067683,
                            32129900
                        ],
                        "toxicity": [
                            32067683,
                            32308090,
                            32758030,
                            33020646
                        ],
                        "advanced salivary gland cancer": [
                            32067683
                        ],
                        "salivary cancer": [
                            32067683
                        ],
                        "follicular cell hyperplasia": [
                            32059434
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                        "follicular cell atypia": [
                            32059434
                        ],
                        "ITH": [
                            32059187
                        ],
                        "intratumoral hemorrhage": [
                            32059187
                        ],
                        "with MMR-D/microsatellite instability high": [
                            33631043
                        ],
                        "IVH": [
                            32059187
                        ],
                        "intraventricular hemorrhage": [
                            32059187
                        ],
                        "PMA": [
                            32059187
                        ],
                        "tumoral hemorrhage": [
                            32059187
                        ],
                        "hemorrhage": [
                            32059187
                        ],
                        "LGGs": [
                            32059187
                        ],
                        "extramedullary multiple myeloma": [
                            32043788
                        ],
                        "progressive nodal disease": [
                            34205480
                        ],
                        "multiple myeloma": [
                            32043788,
                            32758030
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                        "gcGBM": [
                            32642724
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                        "cardiac arrest": [
                            32028967
                        ],
                        "giant cell glioblastoma": [
                            32642724
                        ],
                        "MSI-H": [
                            32620519
                        ],
                        "respiratory failure": [
                            32028967
                        ],
                        "clear cell sarcoma": [
                            32028967
                        ],
                        "pleural effusion": [
                            32028967
                        ],
                        "dyspnea": [
                            32028967
                        ],
                        "malignant melanoma of the lung": [
                            32028967
                        ],
                        "OA lymphoid hyperplasia": [
                            32012328
                        ],
                        "PT": [
                            32012328
                        ],
                        "orbital pseudo tumor": [
                            32012328
                        ],
                        "idiopathic orbital inflammation": [
                            32012328
                        ],
                        "mantle cell lymphoma": [
                            32012328
                        ],
                        "histiocytic sarcoma": [
                            32212266
                        ],
                        "DLBCL": [
                            32012328
                        ],
                        "diffuse large B-cell lymphoma": [
                            32012328
                        ],
                        "BL": [
                            32012328
                        ],
                        "Burkitt lymphoma": [
                            32012328
                        ],
                        "mature small cell B-cell lymphoma": [
                            32012328
                        ],
                        "chronic conjunctivitis": [
                            32012328
                        ],
                        "HTS": [
                            32012328
                        ],
                        "lymphoid lesion": [
                            32012328
                        ],
                        "OA-MZL": [
                            32012328
                        ],
                        "MZL": [
                            32012328
                        ],
                        "extranodal marginal zone lymphoma": [
                            32012328
                        ],
                        "OAL": [
                            32012328
                        ],
                        "ocular adnexal (OA) lymphoma": [
                            32012328
                        ],
                        "left parietal tumor": [
                            31966927
                        ],
                        "multicentric glioma": [
                            31966927
                        ],
                        "epithelioid GBM": [
                            31966927
                        ],
                        "glioblastoma multiforme": [
                            31966927
                        ],
                        "BRAF thyroid cancer": [
                            31937621
                        ],
                        "sarcomatous": [
                            31903645,
                            32369821
                        ],
                        "epithelial glioblastoma": [
                            31903645
                        ],
                        "SCA": [
                            31892193
                        ],
                        "cystadenoma": [
                            31892193
                        ],
                        "hypopituitarism": [
                            33795686
                        ],
                        "low-grade serous ovarian carcinoma": [
                            31892193
                        ],
                        "toxicities": [
                            33020648
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                        "blurry vision": [
                            31890457
                        ],
                        "headache": [
                            31890457
                        ],
                        "anaplasia": [
                            31890457
                        ],
                        "desmoid type fibromatosis": [
                            32099073,
                            32291398
                        ],
                        "gastrointestinal stromal tumor": [
                            31792037,
                            32236636
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                        "metabolic disease": [
                            31792037
                        ],
                        "CVA": [
                            31758407
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                        "seminoma": [
                            31653608
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                        "testicular germ cell tumor": [
                            31653608
                        ],
                        "MNGT": [
                            31617914
                        ],
                        "neuronal glial tumor": [
                            31617914
                        ],
                        "Ganglioglioma": [
                            31562743,
                            32242226
                        ],
                        "desmoplastic infantile Ganglioglioma": [
                            31562743
                        ],
                        "AM": [
                            31408190
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                        "follicular adenoma": [
                            31407636
                        ],
                        "follicular and Hürthle cell carcinoma": [
                            31407636
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                        "TC": [
                            31407636
                        ],
                        "MC": [
                            31400926
                        ],
                        "left frontal and parietal tumor": [
                            31966927
                        ],
                        "mucinous": [
                            31400926
                        ],
                        "signet ring cell colorectal carcinoma": [
                            31400926
                        ],
                        "microsatellite instability": [
                            31386297,
                            32278676
                        ],
                        "unselected lung adenocarcinoma": [
                            31382039
                        ],
                        "melanocytic proliferation": [
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                        "Spitz tumor": [
                            31361613,
                            32291779
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                        "spitzoid lesion": [
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                        "malignant": [
                            31361613,
                            32291779
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                            31361613
                        ],
                        "melanocytic neoplasm": [
                            31361613,
                            32118628,
                            32291779,
                            34205480
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                        "carcinoma of the endometrium": [
                            31269413
                        ],
                        "arthralgia": [
                            32534646
                        ],
                        "positive for α-methylacyl-coenzyme A racemase": [
                            31269413
                        ],
                        "ECCC": [
                            31269413
                        ],
                        "endometrial clear cell carcinoma": [
                            31269413
                        ],
                        "lymphoma": [
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                            32012328,
                            32758030
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                        "WD": [
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                        "CNS tumor": [
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                        ],
                        "astrocytic glioma": [
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                        "liver disease": [
                            30977242
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                        "non-FL-HCC": [
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                        "liver tumor": [
                            30977242
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                        "HCC": [
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                        "hepatocellular carcinoma": [
                            30977242
                        ],
                        "pleomorphic xanthoastrocytoma": [
                            30972500,
                            32242226
                        ],
                        "malignant pleural mesothelioma": [
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                        ],
                        "malignant spindle cell neoplasm": [
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                        "CFCS": [
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                        ],
                        "castrate-resistant prostate cancer": [
                            32297439
                        ],
                        "melanocytic tumor": [
                            23890088,
                            32118628,
                            32291779
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                        "PCa": [
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                        "Legius syndrome": [
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                            28650561
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                        "neurofibromatosis type 1": [
                            23875798,
                            28650561,
                            30290804,
                            30569607,
                            31151904
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                        "cerebellar tumor": [
                            30203362
                        ],
                        "papilloma": [
                            17551924
                        ],
                        "non-melanoma": [
                            30220966
                        ],
                        "follicular cell derived thyroid cancer": [
                            32265839
                        ],
                        "multiple adenoma": [
                            23263490
                        ],
                        "Noonan and Costello syndrome": [
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                            16825433
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                        "deep penetrating nevi": [
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                        ],
                        "CM": [
                            32305056,
                            33383577
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                        "colorectal adenoma": [
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                        ],
                        "hematological malignancies": [
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                        "GBMc": [
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                        "epithelioid blue nevus": [
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                        ],
                        "hypoplastic supraorbital ridge": [
                            22946697
                        ],
                        "bitemporal narrowing": [
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                        ],
                        "hematologic malignancies": [
                            22639828
                        ],
                        "RASopathy": [
                            22946697,
                            28650561,
                            30732632,
                            30762279
                        ],
                        "B-prolymphocytic leukemia": [
                            22230299
                        ],
                        "solid tumor": [
                            22230299,
                            24947927,
                            32758030
                        ],
                        "clonal myeloid disorder": [
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                        ],
                        "NS": [
                            18456719,
                            19206169
                        ],
                        "high MSI": [
                            31386297,
                            32278676
                        ],
                        "prolymphocytic leukemia": [
                            22230299
                        ],
                        "microsatellite stable": [
                            23263490,
                            33414136
                        ],
                        "B-cell malignancies": [
                            22230299
                        ],
                        "CLL": [
                            22230299,
                            23088640,
                            30807786,
                            32720348
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                        "hypovascularity": [
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                        ],
                        "breast cancer": [
                            22169769,
                            30354850,
                            32000721,
                            32069380,
                            32348852,
                            32629543
                        ],
                        "hematologic malignancy": [
                            22169769,
                            32043788
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                        "tuberculosis": [
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                        "psammoma": [
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                        ],
                        "Lynch syndrome": [
                            30521064,
                            31386297,
                            32620519,
                            32661327,
                            33414136
                        ],
                        "undifferentiated melanoma": [
                            32922664
                        ],
                        "neutropenia": [
                            30361170
                        ],
                        "uveal melanoma": [
                            21349766,
                            30558566,
                            32305056
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                        "lentigo maligna": [
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                        "seizure": [
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                        "BM": [
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                        "malignant glioma": [
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                        "multiple nevi": [
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                        "acute myeloid leukemia": [
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                        "early death": [
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                        "epithelioid glioblastoma": [
                            30972500,
                            31903645,
                            31966927
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                        "cubitus valgus": [
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                        "cardiac failure": [
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                        "anaplastic PXA": [
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                        "webbed neck": [
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                        "SCC": [
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                        "acute lymphoblastic leukemia": [
                            17483702,
                            20523244,
                            23009221
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                        "congenital heart disease": [
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                        "PXA": [
                            30972500,
                            32242226
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                        "precursor T-cell lymphoblastic lymphoma": [
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                        "left ventricular outflow tract obstruction": [
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                        "wound": [
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                        "pleurisy": [
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                        "convex facial profile": [
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                        ],
                        "developmental disorder": [
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                            18413255,
                            19206169,
                            21396583,
                            30732632,
                            30762279
                        ],
                        "NSLC": [
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                        "leukemia": [
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                            32297104
                        ],
                        "pneumonia": [
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                            32028967
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                        "head and neck cancer": [
                            30569573
                        ],
                        "wt": [
                            31792037,
                            32238401
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                        "CRC": [
                            19603024,
                            23263490,
                            25673558,
                            30122982,
                            30202242,
                            30370522,
                            30612269,
                            31400926,
                            31515458,
                            31699882,
                            31704811,
                            32000721,
                            32249344,
                            32278676,
                            32294981,
                            32304411,
                            32629543,
                            32661327,
                            33356422,
                            33631043
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                        "mCRC": [
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                            30122982,
                            30476968,
                            31515458,
                            32304411,
                            32796636
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                        "HGSC": [
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                        "skeletal and ectodermal anomalies": [
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                        "colorectal cancer": [
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                            19603024,
                            20619739,
                            21098728,
                            21641636,
                            22586653,
                            23263490,
                            24112392,
                            24947927,
                            25673558,
                            25673644,
                            26314551,
                            30122982,
                            30202242,
                            30364934,
                            30370522,
                            30458818,
                            30476968,
                            30521064,
                            30562355,
                            30565582,
                            30565583,
                            30568222,
                            30612269,
                            31386297,
                            31400926,
                            31515458,
                            31589789,
                            31699882,
                            31704811,
                            31911540,
                            32000721,
                            32092099,
                            32249344,
                            32278676,
                            32294981,
                            32304411,
                            32629543,
                            32661327,
                            32758030,
                            32796636,
                            33075161,
                            33356422,
                            33414136,
                            33631043
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                        "primary orbital melanoma": [
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                        "facial dysmorphia": [
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                        "ocular melanoma": [
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                        "thyroid neoplasia": [
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                        "LS": [
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                            30521064,
                            31386297,
                            32620519
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                        "SGC": [
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                        "infection": [
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                        "DCM": [
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                        "LEOPARD": [
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                        "CON": [
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                        "congenital heart defect": [
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                            17551924,
                            18456719,
                            21396583,
                            21495173
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                        "melanoma in situ lesion": [
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                        "RAI-R disease": [
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                        "pilocytic astrocytoma": [
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                            23817572,
                            26314551,
                            28002790,
                            30203362,
                            30570705,
                            30825062,
                            31151904,
                            32059187
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                        "lung cancer": [
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                            30275180,
                            30569573,
                            30902917,
                            31382039,
                            32269074,
                            32913992
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                        "carcinoma": [
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                            23263490,
                            26314551,
                            30279110,
                            30354850,
                            30458818,
                            30565721,
                            31243107,
                            31269413,
                            31400926,
                            31892193,
                            32059434,
                            32083567,
                            32284020,
                            32294981,
                            32326836,
                            32348852,
                            32822286
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                        "fatigue": [
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                        "short stature": [
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                            21495173
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                        "melanoma tumor": [
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                            31617914
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                        "facial dysmorphism": [
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                            21396583
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                        "colon perforation": [
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                        "fibrosarcoma": [
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                        "ECC": [
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                        "metastatic melanoma": [
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                            30562855,
                            30925943,
                            31063649,
                            32291725,
                            32301010,
                            32534646,
                            33020648
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                        "chronic lymphocytic leukemia": [
                            22230299,
                            23088640,
                            30807786,
                            32720348
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                        "growth deficiency": [
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                        "microsatellite instability low": [
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                        "heart defect": [
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                            17483702,
                            20523244
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                        "heart failure": [
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                        "DIA": [
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                        "skeletal, ectodermal and hematologic anomalies": [
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                        "cardiofaciocutaneous (CFC) syndrome": [
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                            20523244
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                        "tumor": [
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                            15630448,
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                            32291398,
                            32291779,
                            32294880,
                            32294981,
                            32297439,
                            32304411,
                            32305056,
                            32306207,
                            32315234,
                            32358589,
                            32369821,
                            32527755,
                            32540409,
                            32620519,
                            32629543,
                            32642724,
                            32758030,
                            32796636,
                            32859654,
                            32890629,
                            32907612,
                            32913992,
                            33020646,
                            33020648,
                            33075161,
                            33273059,
                            33318037,
                            33355204,
                            33356422,
                            33383577,
                            33414136,
                            33579976,
                            33595872,
                            33795686,
                            33884105
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                            16825433,
                            17483702,
                            17551924,
                            20523244,
                            21495173,
                            22946697,
                            28650561
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                            16439621,
                            16474404,
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                            18042262,
                            18413255,
                            18456719,
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                            30354850,
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                            31243107,
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                            32913992
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                        "BRAF -mutant non-small cell lung cancer": [
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                            23088640,
                            26314551,
                            26530882,
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                            30654714,
                            31407636,
                            31602213,
                            31937621,
                            32297204,
                            32326836,
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                            23817572,
                            28002790,
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                        "PEM": [
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                        "open bite": [
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                        "non-Hodgkin'S lymphoma": [
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                        "RASopathies": [
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                            28650561,
                            30732632,
                            30762279,
                            33795686
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                        "serous ovarian cancer": [
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                            30972500,
                            31038238,
                            31562743,
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                            17551924,
                            18039946,
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                            18456719,
                            21495173,
                            22946697,
                            23875798
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                        "NF1": [
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                            30290804,
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                        "animal type melanoma": [
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                        "non-cerebellar tumor": [
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                        "ENE": [
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                        "mental retardation": [
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                            16825433,
                            17483702,
                            18456719,
                            20523244,
                            21495173
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                        "prostate cancer": [
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                            32297439
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                            17551924
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                        "bitemporal constriction": [
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                            31519698
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                            17551924,
                            18039946,
                            21396583,
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                            30762279
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                        "disease": [
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                            24112392,
                            30219970,
                            30220966,
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                            30352402,
                            30370522,
                            30565583,
                            30568222,
                            30654714,
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                            30824584,
                            31925410,
                            32007138,
                            32067683,
                            32315234,
                            32326836,
                            32348852,
                            33414136
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                        "intraepidermal melanocytic proliferation": [
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                            17483702,
                            18456719,
                            20523244,
                            21396583,
                            23875798,
                            28650561,
                            30348783,
                            30732632
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                            30732632,
                            30762279
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                            19206169,
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                        "SRC": [
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                            31400926
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                            30565583,
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                            32720348
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                        "Costello syndrome": [
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                            16825433,
                            17483702,
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                        "weakness": [
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                        "healthy": [
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                            32000721
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                        "ATC": [
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                        "hairy cell leukemia": [
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                            24428489,
                            32257795,
                            32297104
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                        "acral melanoma": [
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                        "spitzoid": [
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                            30833747
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                        "hepatoblastoma": [
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                            30977242
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                            16474404,
                            17483702,
                            17551924,
                            21495173,
                            28650561,
                            33795686
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                        "grade IV glioma": [
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                        "aNSCLC": [
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                        "mental retardation syndrome": [
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                            20523244
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                        "TML": [
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                        "proptosis": [
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                        "autosomal dominant neuro cardio-facial-cutaneous syndrome": [
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                        "hair anomalies": [
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                        "microcalcification": [
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                            30902917,
                            32238401
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                        "neuro cardio-facial-cutaneous syndrome": [
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                        "microsatellite stability": [
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                        "malignant disorder": [
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                        "MSI": [
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                            31243107
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                        "genetic defect": [
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                        "malignant melanoma": [
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                            31408190,
                            31767937,
                            32028967,
                            32922664
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                        "metastatic melanoma tumor": [
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                        "TFT": [
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                        "non-small cell lung cancer": [
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                            30325992,
                            30354850,
                            30442274,
                            30568222,
                            30902917,
                            31470866,
                            31798692,
                            31959346,
                            32269074,
                            32527755,
                            32758030,
                            32913992,
                            33824136
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                        "NSCLC": [
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                            30325992,
                            30902917,
                            31470866,
                            31619231,
                            31798692,
                            31959346,
                            32269074,
                            32527755,
                            32540409,
                            32859654,
                            32913992,
                            33824136
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                        "glioma": [
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                            29948154,
                            30333046,
                            30569607,
                            30972500,
                            31151904,
                            31811016,
                            32059187,
                            32242226,
                            32642724,
                            33579976
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                        "pancreatic acinar and papillary thyroid cancer": [
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                        "nonsmall cell lung cancer": [
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                        "capillary malformation arteriovenous malformation syndrome": [
                            23875798
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                        "pancreatic cancer": [
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                            26732095,
                            31519698
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                        "melanoma": [
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                            12460919,
                            21098728,
                            21349766,
                            23088640,
                            23890088,
                            24345920,
                            24455489,
                            24947927,
                            25452114,
                            25673644,
                            26072686,
                            26314551,
                            30154648,
                            30238891,
                            30361170,
                            30552700,
                            30558566,
                            30561760,
                            30562855,
                            30563872,
                            30569573,
                            30674989,
                            30793515,
                            30820351,
                            30824584,
                            30833747,
                            30987999,
                            31063649,
                            31082388,
                            31171876,
                            31171878,
                            31171879,
                            31217909,
                            31257073,
                            31408190,
                            31618628,
                            31727958,
                            31767937,
                            31980996,
                            32007138,
                            32063604,
                            32118628,
                            32123303,
                            32234759,
                            32238401,
                            32285462,
                            32291316,
                            32291725,
                            32291779,
                            32293049,
                            32301010,
                            32304411,
                            32308090,
                            32534646,
                            32758030,
                            32890629,
                            32922664,
                            33020646,
                            33020648,
                            33273059,
                            34205480
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                        "nonpapillary thyroid cancer": [
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                        "LGS": [
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                        "endocrine deficiencies": [
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                        "proteinuria": [
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                        "familial non-medullary thyroid cancer": [
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                        "PLGG": [
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                            29948154,
                            31811016,
                            32242226
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                        "malignancy": [
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                            30833747,
                            31758407,
                            32297204
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                        "FNMTC": [
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                        "maculopapular rash": [
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                        "NMTC": [
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                        "SNMTC": [
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                        "pancreatic, lung, ovarian, and thyroid cancer": [
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                        "pancreatic acinar cell carcinoma": [
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                        "pain": [
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                        "OIS": [
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                        "genetic disorder": [
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                        "craniosynostosis": [
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                        "DTC": [
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                            32326836
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                        "TKD": [
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                        "low-grade glioma": [
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                            29948154,
                            31151904,
                            32059187,
                            32242226
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                        "neoplasm": [
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                            30570705,
                            30674989,
                            30972500,
                            31361613,
                            31618628,
                            31890457,
                            34261040
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                        "TRS": [
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                        "LN": [
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                        "OA": [
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                        "metastasis": [
                            30202242,
                            31704811
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                        "neurodevelopmental disorder": [
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                        "glioblastoma": [
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                            30333046,
                            30742119,
                            31038238,
                            31217909,
                            31903645,
                            32923904,
                            33579976
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                        "GBM": [
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                            30333046,
                            30742119,
                            31217909,
                            31966927,
                            32642724
                        ],
                        "anaplastic astrocytoma": [
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                        ],
                        "cardiomyopathy": [
                            30361170,
                            30762279
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                        "rare tumor": [
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                        ],
                        "solid cancer": [
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                        "ONJ": [
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                        "rash": [
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                            32534646
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                        "APC": [
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                            32099073
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                        "multiple lentigines": [
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                            28650561
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                        "cutaneous melanoma": [
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                            31257073,
                            31408190,
                            32007138,
                            32123303,
                            32285462,
                            32305056,
                            33383577
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                        "atypical DPN": [
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                        "MM": [
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                            32369821
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                        "microvesicular hyperplastic": [
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                        ],
                        "brain metastasis": [
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                        "mesothelioma": [
                            30354850
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                        "hypotonia": [
                            18413255
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                        "adenomatous polyposis coli": [
                            30275180,
                            32099073
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                        "prematurity": [
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                        ],
                        "SSA": [
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                        "lesion": [
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                            30565721,
                            31361613,
                            31892193,
                            32012328,
                            32092099,
                            32242226,
                            32291779,
                            32294981
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                            17483702,
                            18039946,
                            18413255,
                            18456719,
                            20523244,
                            21495173
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                        "AF": [
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                        "metastatic non-small cell lung cancer": [
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                        "PDAC": [
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                        "papillary thyroid carcinoma": [
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                            30654714,
                            31407636,
                            31602213,
                            32059434,
                            32291398,
                            32326836,
                            33884105
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                            30361901,
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                            31407636,
                            31602213,
                            31758407,
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                        "liver necrosis": [
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                        "cholangiocarcinoma": [
                            32256810,
                            32315234
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                        "atrial tachycardia": [
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                            30552700
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                        "Chaotic atrial rhythm": [
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                        "nevus": [
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                        "malignant tumor": [
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                        "thyroid tumor": [
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                            33595872
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                        "AA": [
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                        "metastatic giant sarcomatoid melanoma": [
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                        "diarrhea": [
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                            32534646
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                        "dilated cardiomyopathy": [
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                        "papillary thyroid cancer": [
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                            31085763,
                            31758407,
                            32291398
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                        "congenital anomaly": [
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                            20523244
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                        "nonsquamous advanced non-small cell lung cancer": [
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                        "cardiac anomalies": [
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                        "nonsquamous aNSCLC": [
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                        "p": [
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                        "developmental delay": [
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                            16439621,
                            18413255
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                        "pulmonary valve stenosis": [
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                        "cytologic dysplasia": [
                            30458818
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                        "pigmented epithelioid melanocytoma": [
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                            22946697
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                        "MSS": [
                            30458818,
                            33414136
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                        "primary uveal and conjunctival melanoma": [
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                        "spitzoid melanoma": [
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                            30833747,
                            31361613
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                        "squamous cell carcinoma": [
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                            32284020,
                            32913992
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                        "dysplastic nevi": [
                            30552700
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                        "POM": [
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                        "orbital melanoma": [
                            30558566
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                            31382039,
                            31619231,
                            32269074,
                            32269691
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                        "metastatic lung cancer": [
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                        "central nervous system tumor": [
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                        "neurofibromatosis type 1 (NF1) syndrome": [
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                            32308090
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                        "arrhythmogenic right ventricular cardiomyopathy": [
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                        "ARVC": [
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                        "Dysembryoplastic neuroepithelial tumor": [
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                            31617914
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                        "DNT": [
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                            31617914
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                            31890457
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                        "MYC": [
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                        "AE3": [
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                        "SDHA": [
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                        "MGMT": [
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                        "CD80": [
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                        "SETD2": [
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                            30290804,
                            30336465,
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                            31269413,
                            31892193,
                            31966927,
                            32000721,
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                            32642724
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                        "p16": [
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                            30361170,
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                        "TP53": [
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                            30612269,
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                            31400926,
                            31519698,
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                        "IDH1": [
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                        "GNAQ": [
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                            31589789,
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                            32291779,
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                            34205480
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                        "Melanopsin": [
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                        "PP1": [
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                        "MEK1": [
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                            17551924,
                            18413255,
                            18456719,
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                            21396583,
                            21441910,
                            21495173,
                            22169769,
                            25452114,
                            25673644,
                            26324360,
                            30264293,
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                            31925410
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                        "TERT": [
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                            30203362,
                            30333046,
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                            30972500,
                            30977242,
                            31767937,
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                            32284020,
                            32291779,
                            32305056,
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                        "CDKN2A": [
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                            30612269,
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                        "RET": [
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                        "CBL": [
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                        "p21": [
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                        "PD-1": [
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                },
                "publications": [
                    {
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                        "date_published": 20201201
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                        "date_published": 20201000
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                        "date_published": 20200415
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                        "date_published": 20200400
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                    {
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                        "date_published": 20200300
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                        "date_published": 20200200
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                    {
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                        "date_published": 20191215
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    "ghr_genes": {
        "version": "03-Aug-2020",
        "items": [
            {
                "html_text": "

The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (apoptosis). Chemical signaling through this pathway is essential for normal development before birth.

The BRAF gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.

", "date_published_by_ghr": "2020-07-28", "conditions_list": [ { "name": "Cardiofaciocutaneous Syndrome", "html_text": "

Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.

Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy).

Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as \"coarse.\"

Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms and soles; and a skin condition called keratosis pilaris, which causes small bumps to form on the arms, legs, and face. People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows.

Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). Additional features of this disorder in children and adults can include an unusually large head (macrocephaly), short stature, problems with vision, and seizures.

The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome" }, { "name": "Cholangiocarcinoma", "html_text": "

Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest fats that are in food. Bile is made in the liver and stored in the gallbladder before being released in the small intestine after a person eats.

Cholangiocarcinoma is classified by its location in relation to the liver. Intrahepatic cholangiocarcinoma begins in the small bile ducts within the liver. This is the least common form of the disease, accounting for less than 10 percent of all cases. Perihilar cholangiocarcinoma (also known as a Klatskin tumor) begins in an area called the hilum, where the right and left major bile ducts join and leave the liver. It is the most common form of the disease, accounting for more than half of all cases. The remaining cases are classified as distal cholangiocarcinomas, which begin in bile ducts outside the liver. The perihilar and distal forms of the disease, which both occur outside the liver, are sometimes grouped together and called extrahepatic cholangiocarcinoma.

The three types of cholangiocarcinoma do not usually cause any symptoms in their early stages, and this cancer is usually not diagnosed until it has already spread beyond the bile ducts to other tissues. Symptoms often result when bile ducts become blocked by the tumor. The most common symptom is jaundice, in which the skin and whites of the eyes turn yellow. Other symptoms can include extreme tiredness (fatigue), itching, dark-colored urine, loss of appetite, unintentional weight loss, abdominal pain, and light-colored and greasy stools. These symptoms are described as \"nonspecific\" because they can be features of many different diseases.

Most people who develop cholangiocarcinoma are older than 65. Because this cancer is often not discovered until it has already spread, it can be challenging to treat effectively. Affected individuals can survive for several months to several years after diagnosis, depending on the location of the cancer and how advanced it is.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/cholangiocarcinoma" }, { "name": "Erdheim-Chester Disease", "html_text": "

Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.

People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including a hormone that controls the amount of water released in the urine) may result in hormonal problems such as a condition called diabetes insipidus that leads to excessive urination. Abnormally high pressure of the cerebrospinal fluid within the skull (intracranial hypertension) caused by accumulation of histiocytes in the brain may result in headaches, seizures, cognitive impairment, or problems with movement or sensation. People with this condition can also have shortness of breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths, or inability to conceive a child (infertility). Affected individuals may also experience fever, night sweats, fatigue, weakness, and weight loss.

The signs and symptoms of Erdheim-Chester disease usually appear between the ages of 40 and 60, although the disorder can occur at any age. The severity of the condition varies widely; some affected individuals have few or no associated health problems, while others have severe complications that can be life-threatening.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/erdheim-chester-disease" }, { "name": "Gastrointestinal Stromal Tumor", "html_text": "

A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign).

Small tumors may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the abdomen, nausea, vomiting, loss of appetite, or weight loss. Sometimes, tumors cause bleeding, which may lead to low red blood cell counts (anemia) and, consequently, weakness and tiredness. Bleeding into the intestinal tract may cause black and tarry stools, and bleeding into the throat or stomach may cause vomiting of blood.

Affected individuals with no family history of GIST typically have only one tumor (called a sporadic GIST). People with a family history of GISTs (called familial GISTs) often have multiple tumors and additional signs or symptoms, including noncancerous overgrowth (hyperplasia) of other cells in the gastrointestinal tract and patches of dark skin on various areas of the body. Some affected individuals have a skin condition called urticaria pigmentosa (also known as cutaneous mastocytosis), which is characterized by raised patches of brownish skin that sting or itch when touched.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor" }, { "name": "Giant Congenital Melanocytic Nevus", "html_text": "

Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body.

People with giant congenital melanocytic nevus may have more than one nevus (plural: nevi). The other nevi are often smaller than the giant nevus. Affected individuals may have one or two additional nevi or multiple small nevi that are scattered over the skin; these are known as satellite or disseminated nevi.

Affected individuals may feel anxiety or emotional stress due to the impact the nevus may have on their appearance and their health. Children with giant congenital melanocytic nevus can develop emotional or behavior problems.

Some people with giant congenital melanocytic nevus develop a condition called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and spinal cord. These melanocytes may be spread out or grouped together in clusters. Their growth can cause increased pressure in the brain, leading to headache, vomiting, irritability, seizures, and movement problems. Tumors in the brain may also develop.

Individuals with giant congenital melanocytic nevus have an increased risk of developing an aggressive form of skin cancer called melanoma, which arises from melanocytes. Estimates vary, but it is generally thought that people with giant congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing melanoma. Melanoma commonly begins in the nevus, but it can develop when melanocytes that invade other tissues, such as those in the brain and spinal cord, become cancerous. When melanoma occurs in people with giant congenital melanocytic nevus, the survival rate is low.

Other types of tumors can also develop in individuals with giant congenital melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors (lipomas), and tumors of the nerve cells (schwannomas).

", "ghr_link": "https://ghr.nlm.nih.gov/condition/giant-congenital-melanocytic-nevus" }, { "name": "Langerhans Cell Histiocytosis", "html_text": "

Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans cell histiocytosis, excess immature Langerhans cells usually form tumors called granulomas. Many researchers now consider Langerhans cell histiocytosis to be a form of cancer, but this classification remains controversial.

In approximately 80 percent of affected individuals, one or more granulomas develop in the bones, causing pain and swelling. The granulomas, which usually occur in the skull or the long bones of the arms or legs, may cause the bone to fracture.

Granulomas also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild to severe. The pituitary gland may also be affected; this gland is located at the base of the brain and produces hormones that control many important body functions. Without hormone supplementation, affected individuals may experience delayed or absent puberty or an inability to have children (infertility). In addition, pituitary gland damage may result in the production of excessive amounts of urine (diabetes insipidus) and dysfunction of another gland called the thyroid. Thyroid dysfunction can affect the rate of chemical reactions in the body (metabolism), body temperature, skin and hair texture, and behavior.

In 15 to 20 percent of cases, Langerhans cell histiocytosis affects the lungs, liver, or blood-forming (hematopoietic) system; damage to these organs and tissues may be life-threatening. Lung involvement, which appears as swelling of the small airways (bronchioles) and blood vessels of the lungs, results in stiffening of the lung tissue, breathing problems, and increased risk of infection. Hematopoietic involvement, which occurs when the Langerhans cells crowd out blood-forming cells in the bone marrow, leads to a general reduction in the number of blood cells (pancytopenia). Pancytopenia results in fatigue due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia).

Other signs and symptoms that may occur in Langerhans cell histiocytosis, depending on which organs and tissues have Langerhans cell deposits, include swollen lymph nodes, abdominal pain, yellowing of the skin and whites of the eyes (jaundice), delayed puberty, protruding eyes, dizziness, irritability, and seizures. About 1 in 50 affected individuals experience deterioration of neurological function (neurodegeneration).

Langerhans cell histiocytosis is often diagnosed in childhood, usually between ages 2 and 3, but can appear at any age. Most individuals with adult-onset Langerhans cell histiocytosis are current or past smokers; in about two-thirds of adult-onset cases the disorder affects only the lungs.

The severity of Langerhans cell histiocytosis, and its signs and symptoms, vary widely among affected individuals. Certain presentations or forms of the disorder were formerly considered to be separate diseases. Older names that were sometimes used for forms of Langerhans cell histiocytosis include eosinophilic granuloma, Hand-Schüller-Christian disease, and Letterer-Siwe disease.

In many people with Langerhans cell histiocytosis, the disorder eventually goes away with appropriate treatment. It may even disappear on its own, especially if the disease occurs only in the skin. However, some complications of the condition, such as diabetes insipidus or other effects of tissue and organ damage, may be permanent.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis" }, { "name": "Lung Cancer", "html_text": "

Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, blood in the mucus, breathing problems, trouble swallowing or speaking, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Additional symptoms can develop if the cancer spreads (metastasizes) into other tissues. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked.

Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent.

Small cell lung cancer grows quickly and in more than half of cases the cancer has spread beyond the lung by the time the condition is diagnosed. Small cell lung cancer often metastasizes, most commonly to the liver, brain, bones, and adrenal glands (small hormone-producing glands located on top of each kidney). After diagnosis, most people with small cell lung cancer survive for about 1 year; less than seven percent survive 5 years.

Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from squamous cells that line the passages leading from the windpipe (trachea) to the lungs (bronchi). Large cell carcinoma arises from epithelial cells that line the lungs. Large cell carcinoma encompasses non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/lung-cancer" }, { "name": "Melanoma", "html_text": "

Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.

Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.

Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).

A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/melanoma" }, { "name": "Multiple Myeloma", "html_text": "

Multiple myeloma is a cancer that develops in the bone marrow, the spongy tissue found in the center of most bones. The bone marrow produces red blood cells, which carry oxygen throughout the body; white blood cells, which form the body's defenses (immune system); and platelets, which are necessary for blood clotting.

Multiple myeloma is characterized by abnormalities in plasma cells, a type of white blood cell. These abnormal cells multiply out of control, increasing from about one percent of cells in the bone marrow to the majority of bone marrow cells. The abnormal cells form tumors within the bone, causing bone pain and an increased risk of fractures. If the tumors interfere with nerves near the bones, numbness or weakness in the arms or legs can occur. Affected individuals may also experience a loss of bone tissue, particularly in the skull, spine, ribs, and pelvis. The deterioration of bone can result in an excess of calcium in the blood (hypercalcemia), which can lead to nausea and loss of appetite, excessive thirst, fatigue, muscle weakness, and confusion.

The abnormal plasma cells in multiple myeloma produce proteins that impair the development of normal blood cells. As a result, affected individuals may have a reduced number of red blood cells (anemia), which can cause fatigue, weakness, and unusually pale skin (pallor); a low number of white blood cells (leukopenia), which can result in a weakened immune system and frequent infections such as pneumonia; and a reduced number of platelets (thrombocytopenia), which can lead to abnormal bleeding and bruising. Kidney problems can also occur in this disorder, caused by hypercalcemia or by toxic proteins produced by the abnormal plasma cells.

People with multiple myeloma typically develop the disorder around age 65. Over time, affected individuals can develop life-threatening complications, but the rate at which this happens varies widely. Some affected individuals are diagnosed incidentally when tests are done for other purposes and do not experience symptoms for years.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/multiple-myeloma" }, { "name": "Noonan Syndrome", "html_text": "

Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. Affected individuals may have a high arch in the roof of the mouth (high-arched palate), poor teeth alignment, and a small lower jaw (micrognathia). Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.

Between 50 and 70 percent of individuals with Noonan syndrome have short stature. At birth, they are usually a normal length and weight, but growth slows over time. Abnormal levels of growth hormone, a protein that is necessary for the normal growth of the body's bones and tissues, may contribute to the slow growth.

Individuals with Noonan syndrome often have either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some affected people may also have an abnormal side-to-side curvature of the spine (scoliosis).

Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle.

A variety of bleeding disorders have been associated with Noonan syndrome. Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Rarely, women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation (menorrhagia) or childbirth.

Adolescent males with Noonan syndrome typically experience delayed puberty. They go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but most have normal puberty and fertility.

Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years. Infants with Noonan syndrome may be born with puffy hands and feet caused by a buildup of fluid (lymphedema), which can go away on its own. Older individuals can also develop lymphedema, usually in the ankles and lower legs.

Some people with Noonan syndrome develop cancer, particularly those involving the blood-forming cells (leukemia). It has been estimated that children with Noonan syndrome have an eightfold increased risk of developing leukemia or other cancers over age-matched peers.

Noonan syndrome is one of a group of related conditions, collectively known as RASopathies. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. In addition to Noonan syndrome, the RASopathies include cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple lentigines.

", "ghr_link": "https://ghr.nlm.nih.gov/condition/noonan-syndrome" }, { "name": "Noonan Syndrome With Multiple Lentigines", "html_text": "

Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.

The lentigines seen in Noonan syndrome with multiple lentigines typically first appear in mid-childhood, mostly on the face, neck, and upper body. Affected individuals may have thousands of small dark brown skin spots by the time they reach puberty. Unlike freckles, the appearance of lentigines has nothing to do with sun exposure. In addition to lentigines, people with this condition may have lighter brown skin spots called café-au-lait spots. Café-au-lait spots tend to develop before the lentigines, appearing within the first year of life in most affected people.

Of the people with Noonan syndrome with multiple lentigines who have heart defects, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. The hypertrophic cardiomyopathy most often affects the lower left chamber of the heart (the left ventricle). Up to 20 percent of people with Noonan syndrome with multiple lentigines who have heart problems have a narrowing of the artery from the heart to the lungs (pulmonary stenosis).

People with Noonan syndrome with multiple lentigines can have a distinctive facial appearance. In addition to ocular hypertelorism, affected individuals may have droopy eyelids (ptosis), thick lips, and low-set ears. Affected individuals also usually have an abnormal appearance of the chest; they either have pectus excavatum or pectus carinatum.

At birth, people with Noonan syndrome with multiple lentigines are typically of normal weight and height, but in some, growth slows over time. This slow growth results in affected individuals being shorter than average, although less than half of people with Noonan syndrome with multiple lentigines have significantly short stature.

Other signs and symptoms of Noonan syndrome with multiple lentigines include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), mild intellectual disability, and extra folds of skin on the back of the neck. Affected males often have genital abnormalities, which can include undescended testes (cryptorchidism) and a urethra that opens on the underside of the penis (hypospadias). These abnormalities may reduce the ability to have biological children (decreased fertility). Females with Noonan syndrome with multiple lentigines may have poorly developed ovaries and delayed puberty.

Noonan syndrome with multiple lentigines is one of a group of related conditions collectively known as RASopathies. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. In addition to Noonan syndrome with multiple lentigines, the RASopathies include Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Legius syndrome.

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"BRAF V600K", "BRAF V600R", "BRAF codon(s) 600 any", "BRAF any mutation" ], "interpretations": "B-RAF is a member of the RAF-family of kinases which plays an important role in the RAS-RAF-MEK-ERK mitotic signaling pathway. Mutations of B-RAF have been described in up to 100% of Hairy cell leukemia, 40-70% of Langerhans cell histiocytosis, approximately 50% of Erdheim-Chester disease, approximately 5% of diffuse large B cell lymphoma and plasma cell neoplasms and less than 5% of chronic lymphocytic leukemia. While some reports have found that 10-20% of cases of acute leukemias (ALL or AML) may have BRAF mutations, other reports have described no BRAF in those diseases or in myeloid diseases such as MDS or CML. The hotspot for mutations in BRAF is at codon Val600 and these are activating mutations. The most common activating mutation is p.Val600Glu(V600E). Various B-Raf inhibitors(Vemurafenib, Dabrafenib) have been FDA approved for therapy for some tumor types in certain clinical settings. 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"10190071404531350006", "10380071407533350005", "10380071407533350007" ], "type": "variantId", "definition": "BRAF V600D", "gene_id": 2273 }, { "variants": [ "10190071404531360004", "10380071407533360004" ], "type": "variantId", "definition": "BRAF V600E", "gene_id": 2273 }, { "variants": [ "10190071404531360006", "10380071407533360006" ], "type": "variantId", "definition": "BRAF V600K", "gene_id": 2273 }, { "variants": [ "10190071404531360005", "10190071404531360007", "10380071407533360005", "10380071407533360007" ], "type": "variantId", "definition": "BRAF V600R", "gene_id": 2273 }, { "type": "codon", "gene_id": 2273, "definition": "BRAF codon(s) 600 any", "aa_positions": [ 600 ], "coding_impact": "any" }, { "type": "any mutation", "definition": "BRAF any mutation", "gene_id": 2273 } ] } ] }, "unil_domino": { "version": "04-Sep-2019", "lda_score": 2.2441200000000006, "numberdonor_numbersynonymous": 0.0, "phylop_at_5_prime_utr": 0.20521400000000004, "probability_of_ad": 0.993846, 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"triplosensitivity_desc": "No evidence available", "haploinsufficiency_score": 1, "triplosensitivity_score": 0 } }