Gene Variant Detail

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Gene BRAF
Variant L597Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597Q lies within the protein kinase domain of the Braf protein (UniProt.org). L597Q results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288) and induces cell proliferation and cell viability in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L597Q

BRAF mutant BRAF L597X BRAF L597Q

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Transcript NM_004333.6
gDNA chr7:g.140753345A>T
cDNA c.1790T>A
Protein p.L597Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378473.1 chr7:g.140749333_140749334delTTinsCA c.1789_1790delTTinsCA p.L597Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333_140749334delTTinsCA c.1789_1790delTTinsCA p.L597Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345A>T c.1790T>A p.L597Q RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L597Q Advanced Solid Tumor resistant Vemurafenib Clinical Study - Cohort Actionable In a Phase II trial (MyPathway), Zelboraf (vemurafenib) treatment resulted in an objective response in only 4% (1/23) of patient with advanced solid tumors harboring non-V600 BRAF mutations, 1 of the non-responding patients harbored BRAF L597Q (PMID: 29320312; NCT02091141). 29320312
BRAF L597Q Advanced Solid Tumor resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, Zelboraf (vemurafenib) did not inhibit MEK and ERK activation in transformed cells over expressing the constitutively dimerized BRAF L597Q (PMID: 26343582). 26343582
BRAF L597Q lung cancer sensitive Ulixertinib Case Reports/Case Series Actionable In a Phase I trial, treatment with Ulixertinib (BVD-523) resulted in a partial response in a lung cancer patient harboring BRAF L597Q (PMID: 29247021; NCT01781429). 29247021
BRAF L597Q colon adenocarcinoma predicted - sensitive Trametinib Preclinical - Patient cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of tumor cells derived from the metachronous para-aortal lymph node metastasis harboring BRAF L597Q, which was resected from a patient with colon adenocarcinoma (PMID: 31704811). 31704811
BRAF L597Q colon adenocarcinoma predicted - sensitive Selumetinib Preclinical - Patient cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited growth of tumor cells derived from the metachronous para-aortal lymph node metastasis harboring BRAF L597Q, which was resected from a patient with colon adenocarcinoma (PMID: 31704811). 31704811
BRAF L597Q colon adenocarcinoma predicted - sensitive Sapitinib Preclinical - Patient cell culture Actionable In a preclinical study, Sapitinib (AZD8931) inhibited growth of tumor cells derived from the metachronous para-aortal lymph node metastasis harboring BRAF L597Q, which was resected from a patient with colon adenocarcinoma (PMID: 31704811). 31704811
BRAF L597Q colon adenocarcinoma predicted - sensitive Cetuximab + Trametinib Preclinical - Patient cell culture Actionable In a preclinical study, Mekinist (trametinib) and Erbitux (cetuximab) synergistically inhibited growth of tumor cells derived from the metachronous para-aortal lymph node metastasis harboring BRAF L597Q, which was resected from a patient with colon adenocarcinoma (PMID: 31704811). 31704811
BRAF L597Q melanoma predicted - sensitive Trametinib Case Reports/Case Series Actionable In a Phase II trial, Mekinist (trametinib) treatment resulted in an objective response rate of 33% (3/9, all partial responses) and a median progression-free survival (PFS) of 7.3 months in melanoma patients harboring BRAF fusions or non-V600 BRAF mutations, including a partial response with a tumor reduction of 38% and PFS ongoing 8.3 months in a patient harboring BRAF L597Q (PMID: 33861486; NCT02296112). 33861486
BRAF L597Q melanoma predicted - sensitive Trametinib Case Reports/Case Series Actionable In a retrospective analysis, first-line treatment with Mekinist (trametinib) resulted in a partial response lasting 6.2 months in a melanoma patient harboring BRAF L597Q, with 33% tumor shrinkage (PMID: 24933606). 24933606