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"ga4gh:VT.D3aCryULYAfm4mMrdDWMJFqhWySZWc7q", "type": "Text" } }, { "association": { "description": "BRAF Panitumumab + Dabrafenib + Trametinib (EGFR mAb inhibitor + BRAF inhibitor + MEK inhibitor) Responsive", "disease_labels_truncated": "colorectal adenocarcinoma", "drug_labels": "PANITUMUMAB,DABRAFENIB,TRAMETINIB", "drug_labels_truncated": "PANITUMUMA", "environmentalContexts": [ { "description": "PANITUMUMAB", "id": "CHEMBL1201827", "source": "http://rdf.ebi.ac.uk/terms/chembl", "term": "PANITUMUMAB", "usan_stem": "monoclonal antibodies" }, { "approved_countries": [ "Canada", "US" ], "description": "DABRAFENIB", "id": "44462760", "source": "http://rdf.ncbi.nlm.nih.gov/pubchem/compound", "taxonomy": { "class": "Benzene and substituted derivatives", "direct-parent": "Sulfanilides", "kingdom": "Organic compounds", "subclass": "Sulfanilides", "superclass": "Benzenoids" }, "term": "DABRAFENIB", "toxicity": "LD50 in rats is > 2000 mg/kg [MSDS].\r\n\r\n\r\nThe most common side effects of Daretinib (Tafinlar) as a single agent include: hyperkeratosis, headache, pyrexia, arthralgia, papilloma, alopecia, and palmar-plantar erythrodysesthesia syndrome [FDA label].\r\n\r\nThe most common adverse reactions (\u226520%) for Tafinlar in combination with [DB08911] are pyrexia, chills, fatigue, rash, nausea, vomiting, diarrhea, abdominal pain, peripheral edema, cough, headache, arthralgia, night sweats, decreased appetite, constipation, and myalgia [FDA label].\r\n\r\nThe following is a list of toxicities that may occur with the combination of Daretinib and [DB08911]:\r\n\r\n**New primary malignancies**: These may occur when Tafinlar is administered as a single agent or in combination with [DB08911]. Monitor patients for new malignancies prior to initiation of therapy, while on therapy, and following discontinuation of TAFINLAR or the combination therapy. Tumor Promotion in BRAF Wild-Type Melanoma: Increased cell proliferation can occur with BRAF inhibitors [FDA label].\r\n\r\n**Hemorrhage:** Major hemorrhagic events can occur in patients receiving TAFINLAR in combination with trametinib. Monitor for signs and symptoms of bleeding [FDA label]. \r\n\r\n**Venous Thromboembolism**: Deep vein thrombosis and pulmonary embolism can occur in patients receiving the drug combination [FDA label].\r\n\r\n**Cardiomyopathy **: Assess LVEF before treatment with TAFINLAR in combination with trametinib, after one month of treatment, then every 2 to 3 months thereafter [FDA label]. \r\n\r\n**Ocular toxicities**: Perform an ophthalmologic evaluation for any visual disturbances [FDA label]. \r\n\r\n**Serious Febrile Reactions:** Incidence and severity of pyrexia are increased with TAFINLAR in combination with trametinib [FDA label]. \r\n\r\n**Serious Skin Toxicity:** Monitor for skin toxicities and for secondary infections. Discontinue for intolerable Grade 2, or Grade 3 or 4 rash not improving within 3 weeks despite the interruption of TAFINLAR [FDA label]. \r\n\r\n**Hyperglycemia:** Monitor serum glucose levels in patients with pre-existing diabetes or hyperglycemia [FDA label]. \r\n\r\n**Glucose-6-Phosphate Dehydrogenase Deficiency**: Closely monitor for hemolytic anemia [FDA label]. \r\n\r\n**Embryofetal Toxicity**: Can cause fetal harm. Advise females of reproductive potential of potential risk to a fetus. TAFINLAR may render hormonal contraceptives less effective and an alternative method of contraception should be used [FDA label].", "usan_stem": "raf kinase inhibitors" }, { "approved_countries": [ "EU", "Canada", "US" ], "description": "TRAMETINIB", "id": "11707110", "source": "http://rdf.ncbi.nlm.nih.gov/pubchem/compound", "taxonomy": { "class": "Pyridopyrimidines", "direct-parent": "Pyridopyrimidines", "kingdom": "Organic compounds", "superclass": "Organoheterocyclic compounds" }, "term": "TRAMETINIB", "toxicity": "Most common adverse reactions (\u226520%) for trametinib include rash, diarrhea, and lymphedema [FDA label].\r\n\r\nThe most common adverse reactions (\u226520%) for Tafinlar in combination with Trametinib are pyrexia, chills, fatigue, rash, nausea, vomiting, diarrhea, abdominal pain, peripheral edema, cough, headache, arthralgia, night sweats, decreased appetite, constipation, and myalgia [FDA Label].\r\n\r\nThe following is a list of toxicities that may occur with the combination of Dabrafenib and Trametinib:\r\n\r\n**New primary malignancies**: These may occur when Tafinlar is administered as a single agent or in combination with Trametinib. Monitor patients for new malignancies prior to initiation of therapy, while on therapy, and following discontinuation of TAFINLAR or the combination therapy. Tumor Promotion in BRAF Wild-Type Melanoma: Increased cell proliferation can occur with BRAF inhibitors [FDA Label].\r\n\r\n**Hemorrhage**: Major hemorrhagic events can occur in patients receiving TAFINLAR in combination with trametinib. Monitor for signs and symptoms of bleeding [FDA Label].\r\n\r\n**Venous Thromboembolism**: Deep vein thrombosis and pulmonary embolism can occur in patients receiving the drug combination [FDA Label].\r\n\r\n**Cardiomyopathy**: Assess LVEF before treatment with TAFINLAR in combination with trametinib, after one month of treatment, then every 2 to 3 months thereafter [FDA Label].\r\n\r\n**Ocular toxicities**: Perform an ophthalmologic evaluation for any visual disturbances [FDA Label].\r\n\r\n**Serious Febrile Reactions**: Incidence and severity of pyrexia are increased with TAFINLAR in combination with trametinib [FDA Label].\r\n\r\n**Serious Skin Toxicity**: Monitor for skin toxicities and for secondary infections. Discontinue for intolerable Grade 2, or Grade 3 or 4 rash not improving within 3 weeks despite the interruption of TAFINLAR [FDA Label].\r\n\r\n**Hyperglycemia**: Monitor serum glucose levels in patients with pre-existing diabetes or hyperglycemia [FDA Label].\r\n\r\n**Glucose-6-Phosphate Dehydrogenase Deficiency**: Closely monitor for hemolytic anemia [FDA Label].\r\n\r\n**Embryofetal Toxicity**: Can cause fetal harm. Advise females of reproductive potential of potential risk to a fetus. 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"P15056:p.V600E", "XP_005250103.1:p.Val600Glu", "XP_005250102.1:p.Val600Glu", "ENSP00000418033.1:p.V28E", "XP_005250102.1:p.V600E", "XP_005250103.1:p.V600E", "XP_011514831.1:p.V600E", "NP_001341538.1:p.Val600Glu", "NC_000007.14:g.140753336A>T", "XP_011514832.1:p.=", "XP_016868047.1:p.Val640Glu", "chr7:g.140453136A>T", "ENSP00000418033.1:p.Val28Glu", "CM000669.2:g.140753336A>T" ], "hgvs_g_suffix": [ "g.140099605A>T", "g.140453136A>T", "g.140753336A>T", "g.176429T>A" ], "hgvs_p_suffix": [ "p.Val600Glu", "p.V640E", "p.V600E", "p.=", "p.V28E", "p.Val28Glu", "p.Val640Glu" ], "links": [ "http://reg.genome.network/refseq/RS000031", "http://reg.genome.network/refseq/RS000055", "http://myvariant.info/v1/variant/chr7:g.140453136A>T?assembly=hg19", "http://gnomad.broadinstitute.org/variant/7-140453136-A-T", "http://myvariant.info/v1/variant/chr7:g.140753336A>T?assembly=hg38", "http://reg.genome.network/allele/CA123643", "http://reg.genome.network/refseq/RS000007", "http://www.ncbi.nlm.nih.gov/snp/113488022", "http://www.ncbi.nlm.nih.gov/clinvar/variation/13961", "http://www.ncbi.nlm.nih.gov/clinvar/?term=29000[alleleid]", "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=476", "http://exac.broadinstitute.org/variant/7-140453136-A-T", "http://reg.genome.network/refseq/RS000682" ], "name": "V600E", "protein_allele": false, "protein_alt": "E", "protein_end": null, "protein_start": "V600", "provenance": [ "http://reg.genome.network/allele?hgvs=NC_000007.13%3Ag.140453136A%3ET" ], "ref": "A", "referenceName": "GRCh37", "sequence_ontology": { "name": "Uncategorized", "root_name": "Uncategorized", "root_soid": "", "soid": "" }, "start": 140453136, "synonyms": [ "NP_004324.2:p.Val600Glu", "XM_017012559.1:c.1919T>A", "XM_005250046.1:c.1799T>A", "XM_011516530.1:c.1695-3918T>A", "XP_011514831.1:p.Val600Glu", "XM_005250045.1:c.1799T>A", "NR_148928.1:n.2897T>A", "LRG_299:g.176429T>A", "NM_004333.4:c.1799T>A", "NC_000007.12:g.140099605A>T", "XP_011514832.1:p.=", "CM000669.1:g.140453136A>T", "XP_016868048.1:p.Val640Glu", "ENST00000497784.1:n.1834T>A", "XR_001744857.1:n.1927T>A", "NC_000007.13:g.140453136A>T", "ENSP00000420119.1:p.=", "XM_011516529.1:c.1799T>A", "XR_927523.1:n.1703-3918T>A", "XM_017012558.1:c.1919T>A", "P15056:p.Val600Glu", "COSM476", "NM_001354609.1:c.1799T>A", "XR_001744858.1:n.1823-3918T>A", "NG_007873.2:g.176429T>A", "LRG_299t1:c.1799T>A", "XR_927522.1:n.1703-3918T>A", "LRG_299p1:p.Val600Glu", "NG_007873.3:g.176429T>A", "ENST00000479537.5:n.83T>A", "ENST00000288602.10:c.1799T>A", "XR_927521.1:n.1807T>A", "ENSP00000288602.6:p.Val600Glu", "XR_242190.1:n.1807T>A", "XP_005250103.1:p.Val600Glu", "XP_005250102.1:p.Val600Glu", "7-140453136-A-T", "ENST00000496384.6:n.622T>A", "XR_927520.1:n.1807T>A", "chr7:g.140753336A>T", "NM_004333.5:c.1799T>A", "NP_001341538.1:p.Val600Glu", "NC_000007.14:g.140753336A>T", "XP_016868047.1:p.Val640Glu", "chr7:g.140453136A>T", "ENSP00000418033.1:p.Val28Glu", "CM000669.2:g.140753336A>T" ] } ], "ga4gh": [ "SL.U6KjSO0V7vnpNm7VVv1h-eaP_D8EVwbJ", "SQ.Am-idBDZyINER2o5ufq0swixqCr8TZ4Z", "SL.893R88n60XamHAN374hp4VvG3j6hPxIp", "SQ.pECaHyksgpqrvEyEb4gx1M5EvNCJzR58", "SQ.0Q-SgJX1V3seUUIu3qVUtEa55CQsGmEU", "SQ.ul5_G18mRqILweNjxiXJ1KF8d_mpsxjF", "VA.mJbjSsW541oOsOtBoX36Mppr6hMjbjFr", "VA.9dA0egRAIfVFDL1sdU1VP7HsBcG0-DtE", "SQ.F-LrLMe1SRpfUZHkQmvkVKFEGaoDeHul", "SQ.cQvw4UsHHRRlogxbWCB8W-mKD4AraM9y", "VT.9Wer7KrxALcPRDRGVKOEzf9ZEKZpOKK0", "VA.tTjxvDuUh0HVP4F0TdNAfB1biNElUT1Z", "SL.WsNPo_no_NcYU71JAztJiuwitSeW2ZER", "SQ.hSeY-byldamzZ5GGrmsCvAoco-nvCXYe", "VA.2A1O22DON5OKrUXyniXurZuogFLuhGvG", "SQ.IW78mgV5Cqf6M24hy52hPjyyo5tCCd86", "SL.4zgZ-RHQwiifhlqHqI4ZCGXAITIb2u9g", "VA.y3OnKtG-zUM-LTJHOg7IsLVfm8x3PNLI", "VA.5PEgQf-IcXl0GKTa9Wb0xr4Bsrm1XhUe", "SQ.lKdPZpuT-VNvRuKDjsUItNgutfWYgWQd", "SL.-53TcxdIfllwarz3KlVmPzYRf91Jo2Er", "VA.HaPTmn-rrjRoZnIVw1I4AZPa6YHa2ojh", "SL.n7Sz1xZs2BSd4ShzbV6Ojkgab9OvPLrx", "SL.hBqmr9EnnbFvJ5A0FkZ1CuR-Ei6p8Wsg", "SQ.ZJwurRo2HLY018wghYjDKSfIlEH0Y8At", "VA.fC1iEWNGM54CnSI3VDiW9h1jETr1NCmI", "SL.AO9chSP6yzDTKDrP9W1FNG3vzrQFxiDg", "SQ.WaAJ_cXXn9YpMNfhcq9lnzIvaB9ALawo", "VA.u6sKlz0mMQvARmrlnt0Aksz6EbSkmL8z", "SL.gJeEs42k4qeXOKy9CJ515c0v2HTu8s4K", "VA.wR8qEkdmZzqhNYsKpdfLdfWHsZJf9Oe0", "SL.mHP-jIvDKOG6r-mhkhgNNrtHXa2clUSK", "SL.DZoooeFERHEJblsB0_NmHlXpdphuVujm", "VA.xVnu44bpUnozgoA0G7r-RfX48cLVCB_o" ], "gene_identifiers": [ { "ensembl_gene_id": "ENSG00000157764", "entrez_id": "673", "symbol": "BRAF" } ], "genes": [ "BRAF" ], "publications": "https://www.ncbi.nlm.nih.gov/pubmed/19001320,https://www.ncbi.nlm.nih.gov/pubmed/19884556,https://www.ncbi.nlm.nih.gov/pubmed/19603018,https://www.ncbi.nlm.nih.gov/pubmed/25673558,https://www.ncbi.nlm.nih.gov/pubmed/25989278", "response": "1A", "source": "molecularmatch", "tags": [], "text_object": { "definition": "BRAF V600E", "id": "ga4gh:VT.9Wer7KrxALcPRDRGVKOEzf9ZEKZpOKK0", "type": "Text" } }, { "association": { "description": "BRAF V600E confers sensitivity to Dabrafenib in patients with Non-small cell lung cancer", "disease_labels_truncated": "non-small cell lung carcinoma (disease),lung cancer,lung cancer,Primary malignant neoplasm of intrathoracic organs,Primary malignant neoplasm,Neoplasm by body site,respiratory system disease,Disorder of body system,disease or disorder,thoracic disease,neoplastic disease or syndrome,disorder by anatomical region,lung adenocarcinoma,Disorder of trunk,Malignant neoplasm of lower respiratory tract,Malignant epithelial neoplasm of lung,respiratory system cancer,thoracic disease,Primary malignant neoplasm of trunk,respiratory system cancer,respiratory system cancer,carcinoma,Neoplasm of lower respiratory tract,Primary malignant neoplasm of respiratory tract,cancer,Primary malignant neoplasm of lung,lung disease,lower respiratory tract disease,thoracic cancer,Neoplasm of intrathoracic organs,Neoplasm and/or hamartoma,neoplasm of thorax,Neoplasm of trunk,cancer", "drug_labels": "DABRAFENIB", "drug_labels_truncated": "DABRAFENIB", "environmentalContexts": [ { "approved_countries": [ "Canada", "US" ], "description": "DABRAFENIB", "id": "44462760", "source": "http://rdf.ncbi.nlm.nih.gov/pubchem/compound", "taxonomy": { "class": "Benzene and substituted derivatives", "direct-parent": "Sulfanilides", "kingdom": "Organic compounds", "subclass": "Sulfanilides", "superclass": "Benzenoids" }, "term": "DABRAFENIB", "toxicity": "LD50 in rats is > 2000 mg/kg [MSDS].\r\n\r\n\r\nThe most common side effects of Daretinib (Tafinlar) as a single agent include: hyperkeratosis, headache, pyrexia, arthralgia, papilloma, alopecia, and palmar-plantar erythrodysesthesia syndrome [FDA label].\r\n\r\nThe most common adverse reactions (\u226520%) for Tafinlar in combination with [DB08911] are pyrexia, chills, fatigue, rash, nausea, vomiting, diarrhea, abdominal pain, peripheral edema, cough, headache, arthralgia, night sweats, decreased appetite, constipation, and myalgia [FDA label].\r\n\r\nThe following is a list of toxicities that may occur with the combination of Daretinib and [DB08911]:\r\n\r\n**New primary malignancies**: These may occur when Tafinlar is administered as a single agent or in combination with [DB08911]. Monitor patients for new malignancies prior to initiation of therapy, while on therapy, and following discontinuation of TAFINLAR or the combination therapy. Tumor Promotion in BRAF Wild-Type Melanoma: Increased cell proliferation can occur with BRAF inhibitors [FDA label].\r\n\r\n**Hemorrhage:** Major hemorrhagic events can occur in patients receiving TAFINLAR in combination with trametinib. Monitor for signs and symptoms of bleeding [FDA label]. \r\n\r\n**Venous Thromboembolism**: Deep vein thrombosis and pulmonary embolism can occur in patients receiving the drug combination [FDA label].\r\n\r\n**Cardiomyopathy **: Assess LVEF before treatment with TAFINLAR in combination with trametinib, after one month of treatment, then every 2 to 3 months thereafter [FDA label]. \r\n\r\n**Ocular toxicities**: Perform an ophthalmologic evaluation for any visual disturbances [FDA label]. \r\n\r\n**Serious Febrile Reactions:** Incidence and severity of pyrexia are increased with TAFINLAR in combination with trametinib [FDA label]. \r\n\r\n**Serious Skin Toxicity:** Monitor for skin toxicities and for secondary infections. Discontinue for intolerable Grade 2, or Grade 3 or 4 rash not improving within 3 weeks despite the interruption of TAFINLAR [FDA label]. \r\n\r\n**Hyperglycemia:** Monitor serum glucose levels in patients with pre-existing diabetes or hyperglycemia [FDA label]. \r\n\r\n**Glucose-6-Phosphate Dehydrogenase Deficiency**: Closely monitor for hemolytic anemia [FDA label]. \r\n\r\n**Embryofetal Toxicity**: Can cause fetal harm. Advise females of reproductive potential of potential risk to a fetus. TAFINLAR may render hormonal contraceptives less effective and an alternative method of contraception should be used [FDA label].", "usan_stem": "raf kinase inhibitors" } ], "evidence": [ { "description": "BRAF V600E confers sensitivity to Dabrafenib in patients with Non-small cell lung cancer", "evidenceType": { "sourceName": "molecularmatch" }, "info": { "publications": [ "https://www.ncbi.nlm.nih.gov/pubmed/27080216", "https://www.ncbi.nlm.nih.gov/pubmed/22608338" ] } } ], "evidence_label": "B", "evidence_level": 2, "phenotypes": [ { "description": "non-small cell lung carcinoma (disease)", "family": "lung carcinoma", "id": "MONDO:0005233", "source": "http://purl.obolibrary.org/obo/MONDO_0005233", "term": "non-small cell lung carcinoma (disease)" }, { "description": "lung cancer", "family": "cancer", "id": "MONDO:0008903", "source": "http://purl.obolibrary.org/obo/MONDO_0008903", "term": "lung cancer" }, { "description": "lung cancer", "family": "cancer", "id": "MONDO:0008903", "source": "http://purl.obolibrary.org/obo/MONDO_0008903", "term": "lung cancer" }, { "description": "Primary malignant neoplasm of intrathoracic organs", "family": "Primary malignant neoplasm of trunk", "id": "SNOMEDCT:93841009", "source": "SNOMEDCT", "term": "Primary malignant neoplasm of intrathoracic organs" }, { "description": "Primary malignant neoplasm", "id": "MEDDRA:10078954", "source": "MEDDRA", "term": "Primary malignant neoplasm" }, { "description": "Neoplasm by body site", "family": "Disorder by body site", "id": "SNOMEDCT:127331007", "source": "SNOMEDCT", "term": "Neoplasm by body site" }, { "description": "respiratory system disease", "family": "disease or disorder", "id": "MONDO:0005087", "source": "http://purl.obolibrary.org/obo/MONDO_0005087", "term": "respiratory system disease" }, { "description": "Disorder of body system", "family": "Disorder by body site", "id": "SNOMEDCT:362965005", "source": "SNOMEDCT", "term": "Disorder of body system" }, { "description": "disease or disorder", "family": "disposition", "id": "MONDO:0000001", "source": "http://purl.obolibrary.org/obo/MONDO_0000001", "term": "disease or disorder" }, { "description": "thoracic disease", "family": "disease or disorder", "id": "MONDO:0000651", "source": "http://purl.obolibrary.org/obo/MONDO_0000651", "term": "thoracic disease" }, { "description": "neoplastic disease or syndrome", "family": "cell proliferation disorder", "id": "MONDO:0023370", "source": "http://purl.obolibrary.org/obo/MONDO_0023370", "term": "neoplastic disease or syndrome" }, { "description": "disorder by anatomical region", "family": "disease or disorder", "id": "MONDO:0024505", "source": "http://purl.obolibrary.org/obo/MONDO_0024505", "term": "disorder by anatomical region" }, { "description": "lung adenocarcinoma", "family": "non-small cell lung carcinoma (disease)", "id": "MONDO:0005061", "source": "http://purl.obolibrary.org/obo/MONDO_0005061", "term": "lung adenocarcinoma" }, { "description": "Disorder of trunk", "family": "Disorder by body site", "id": "SNOMEDCT:128121009", "source": "SNOMEDCT", "term": "Disorder of trunk" }, { "description": "Malignant neoplasm of lower respiratory tract", "family": "Respiratory tract and pleural neoplasms malignant cell type unspecified NEC", "id": "MEDDRA:10061270", "source": "MEDDRA", "term": "Malignant neoplasm of lower respiratory tract" }, { "description": "Malignant epithelial neoplasm of lung", "family": "Malignant epithelial neoplasm", "id": "SNOMEDCT:448993007", "source": "SNOMEDCT", "term": "Malignant epithelial neoplasm of lung" }, { "description": "respiratory system cancer", "family": "cancer", "id": "MONDO:0000376", "source": "http://purl.obolibrary.org/obo/MONDO_0000376", "term": "respiratory system cancer" }, { "description": "thoracic disease", "family": "disease or disorder", "id": "MONDO:0000651", "source": "http://purl.obolibrary.org/obo/MONDO_0000651", "term": "thoracic disease" }, { "description": "Primary malignant neoplasm of trunk", "family": "Primary malignant neoplasm", "id": "SNOMEDCT:94111002", "source": "SNOMEDCT", "term": "Primary malignant neoplasm of trunk" }, { "description": "respiratory system cancer", "family": "cancer", "id": "MONDO:0000376", "source": "http://purl.obolibrary.org/obo/MONDO_0000376", "term": "respiratory system cancer" }, { "description": "respiratory system cancer", "family": "cancer", "id": "MONDO:0000376", "source": "http://purl.obolibrary.org/obo/MONDO_0000376", "term": "respiratory system cancer" }, { "description": "carcinoma", "family": "cancer", "id": "MONDO:0004993", "source": "http://purl.obolibrary.org/obo/MONDO_0004993", "term": "carcinoma" }, { "description": "Neoplasm of lower respiratory tract", "family": "Neoplasm of respiratory tract", "id": "SNOMEDCT:254618003", "source": "SNOMEDCT", "term": "Neoplasm of lower respiratory tract" }, { "description": "Primary malignant neoplasm of respiratory tract", "family": "Primary malignant neoplasm of ear, nose AND/OR throat", "id": "SNOMEDCT:94118008", "source": "SNOMEDCT", "term": "Primary malignant neoplasm of respiratory tract" }, { "description": "cancer", "family": "neoplasm (disease)", "id": "MONDO:0004992", "source": "http://purl.obolibrary.org/obo/MONDO_0004992", "term": "cancer" }, { "description": "Primary malignant neoplasm of lung", "family": "Primary malignant neoplasm of intrathoracic organs", "id": "SNOMEDCT:93880001", "source": "SNOMEDCT", "term": "Primary malignant neoplasm of lung" }, { "description": "lung disease", "family": "lower respiratory tract disease", "id": "MONDO:0005275", "source": "http://purl.obolibrary.org/obo/MONDO_0005275", "term": "lung disease" }, { "description": "lower respiratory tract disease", "family": "disease or disorder", "id": "MONDO:0000270", "source": "http://purl.obolibrary.org/obo/MONDO_0000270", "term": "lower respiratory tract disease" }, { "description": "thoracic cancer", "family": "cancer", "id": "MONDO:0003274", "source": "http://purl.obolibrary.org/obo/MONDO_0003274", "term": "thoracic cancer" }, { "description": "Neoplasm of intrathoracic organs", "family": "Neoplasm of thorax", "id": "SNOMEDCT:126638003", "source": "SNOMEDCT", "term": "Neoplasm of intrathoracic organs" }, { "description": "Neoplasm and/or hamartoma", "family": "Proliferative mass", "id": "SNOMEDCT:400177003", "source": "SNOMEDCT", "term": "Neoplasm and/or hamartoma" }, { "description": "neoplasm of thorax", "family": "neoplasm (disease)", "id": "MONDO:0021350", "source": "http://purl.obolibrary.org/obo/MONDO_0021350", "term": "neoplasm of thorax" }, { "description": "Neoplasm of trunk", "family": "Neoplasm by body site", "id": "SNOMEDCT:126637008", "source": "SNOMEDCT", "term": "Neoplasm of trunk" }, { "description": "cancer", "family": "neoplasm (disease)", "id": "MONDO:0004992", "source": "http://purl.obolibrary.org/obo/MONDO_0004992", "term": "cancer" } ], "publication_url": "https://www.ncbi.nlm.nih.gov/pubmed/27080216", "response_type": "1B", "variant_name": [ "V600E" ] }, "dev_tags": [ "no-so" ], "diseases": "non-small cell lung carcinoma (disease),lung cancer,lung cancer,Primary malignant neoplasm of intrathoracic organs,Primary malignant neoplasm,Neoplasm by body site,respiratory system disease,Disorder of body system,disease or disorder,thoracic disease,neoplastic disease or syndrome,disorder by anatomical region,lung adenocarcinoma,Disorder of trunk,Malignant neoplasm of lower respiratory tract,Malignant epithelial neoplasm of lung,respiratory system cancer,thoracic disease,Primary malignant neoplasm of trunk,respiratory system cancer,respiratory system cancer,carcinoma,Neoplasm of lower respiratory tract,Primary malignant neoplasm of respiratory tract,cancer,Primary malignant neoplasm of lung,lung disease,lower respiratory tract disease,thoracic cancer,Neoplasm of intrathoracic organs,Neoplasm and/or hamartoma,neoplasm of thorax,Neoplasm of trunk,cancer", "drugs": "DABRAFENIB", "evidence_label": 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"VA.xVnu44bpUnozgoA0G7r-RfX48cLVCB_o" ], "gene_identifiers": [ { "ensembl_gene_id": "ENSG00000157764", "entrez_id": "673", "symbol": "BRAF" } ], "genes": [ "BRAF" ], "publications": "https://www.ncbi.nlm.nih.gov/pubmed/27080216,https://www.ncbi.nlm.nih.gov/pubmed/22608338", "response": "1B", "source": "molecularmatch", "tags": [], "text_object": { "definition": "BRAF V600E", "id": "ga4gh:VT.9Wer7KrxALcPRDRGVKOEzf9ZEKZpOKK0", "type": "Text" } }, { "association": { "description": "BRAF V600E confers sensitivity to Panitumumab and Vemurafenib in patients with mCRC - Metastatic colorectal cancer", "disease_labels_truncated": "colorectal cancer,colon adenocarcinoma,colorectal cancer,colorectal cancer,colorectal cancer,Secondary malignant neoplastic disease,Primary malignant neoplasm of intestinal tract,Malignant adenomatous neoplasm,Neoplasm of gastrointestinal tract,Malignant tumor of digestive organ,Primary malignant neoplasm of large intestine,Malignant neoplasm of abdomen,intestinal neoplasm,Primary malignant neoplasm,intestinal disease,Neoplasm by body site,colonic neoplasm,digestive system cancer,Primary malignant neoplasm of colon,Neoplasm of large intestine,Disorder of lower gastrointestinal tract,Disorder of gastrointestinal tract,Neoplasm of intra-abdominal organs,abdominal and pelvic region disorder,Neoplasm of abdomen,Disorder of body system,disease or disorder,Primary malignant neoplasm of intra-abdominal organs,Disorder of digestive organ,colorectal adenocarcinoma,neoplastic disease or syndrome,Malignant neoplasm of gastrointestinal tract,disorder by anatomical region,Colonic lesion,Disorder of trunk,colon carcinoma,Disorder of abdomen,Primary malignant neoplasm of trunk,Neoplasm of digestive organ,carcinoma,Disorder of digestive tract,digestive system disease,cancer,malignant colon neoplasm,Malignant neoplasm of intraabdominal organ,colonic disease,Primary malignant neoplasm of gastrointestinal tract,intestinal cancer,large intestine disease,Neoplasm and/or hamartoma,Primary adenocarcinoma of intestinal tract,digestive system cancer,Neoplasm of digestive tract,Neoplasm of trunk,cancer", "drug_labels": "PANITUMUMAB,VEMURAFENIB", "drug_labels_truncated": "PANITUMUMA", "environmentalContexts": [ { "description": "PANITUMUMAB", "id": "CHEMBL1201827", "source": "http://rdf.ebi.ac.uk/terms/chembl", "term": "PANITUMUMAB", "usan_stem": "monoclonal antibodies" }, { "approved_countries": [ "EU", "Canada", "US" ], "description": "VEMURAFENIB", "id": "42611257", "source": "http://rdf.ncbi.nlm.nih.gov/pubchem/compound", "taxonomy": { "class": "Organooxygen compounds", "direct-parent": "Aryl-phenylketones", "kingdom": "Organic compounds", "subclass": "Carbonyl compounds", "superclass": "Organic oxygen compounds" }, "term": "VEMURAFENIB", "toxicity": "In the few toxicity reports, it has been shown an increased in the development of cutaneous squamous cell carcinomas or acceleration in pre-existant tumor growth.[FDA label]", "usan_stem": "raf kinase inhibitors" } ], "evidence": [ { "description": "BRAF V600E confers sensitivity to Panitumumab and Vemurafenib in patients with mCRC - Metastatic colorectal cancer", "evidenceType": { "sourceName": "molecularmatch" }, "info": { "publications": [ "https://www.ncbi.nlm.nih.gov/pubmed/24755613", "http://ascopubs.org/doi/abs/10.1200/jco.2015.33.3_suppl.611" ] } } ], "evidence_label": "C", "evidence_level": 3, "phenotypes": [ { "description": "colorectal cancer", "family": "intestinal cancer", "id": "MONDO:0005575", "source": "http://purl.obolibrary.org/obo/MONDO_0005575", "term": "colorectal cancer" }, { "description": "colon adenocarcinoma", "family": "adenocarcinoma", "id": "MONDO:0002271", "source": "http://purl.obolibrary.org/obo/MONDO_0002271", "term": "colon adenocarcinoma" }, { "description": "colorectal cancer", "family": "intestinal cancer", "id": "MONDO:0005575", "source": "http://purl.obolibrary.org/obo/MONDO_0005575", "term": "colorectal cancer" }, { "description": "colorectal cancer", "family": "intestinal cancer", "id": "MONDO:0005575", "source": "http://purl.obolibrary.org/obo/MONDO_0005575", "term": "colorectal cancer" }, { "description": "colorectal cancer", "family": "intestinal cancer", "id": "MONDO:0005575", "source": "http://purl.obolibrary.org/obo/MONDO_0005575", "term": "colorectal cancer" }, { "description": "Secondary malignant neoplastic disease", "family": "Malignant neoplastic disease", "id": "SNOMEDCT:128462008", "source": "SNOMEDCT", "term": "Secondary malignant neoplastic disease" }, { "description": "Primary malignant neoplasm of intestinal tract", "family": "Malignant tumor of intestine", "id": "SNOMEDCT:371992003", "source": "SNOMEDCT", "term": "Primary malignant neoplasm of intestinal tract" }, { "description": "Malignant adenomatous neoplasm", "family": "Malignant epithelial neoplasm - category", "id": "SNOMEDCT:399961007", "source": "SNOMEDCT", "term": "Malignant adenomatous neoplasm" }, { "description": "Neoplasm of 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