Gene Variant Detail

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Gene BRAF
Variant L597S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597S lies within the protein kinase domain of the Braf protein (UniProt.org). L597S 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 L597S

BRAF mutant BRAF L597X BRAF L597S

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Transcript NM_004333.6
gDNA chr7:g.140753345_140753346delCTinsTC
cDNA c.1789_1790delCTinsTC
Protein p.L597S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_004333 chr7:g.140753345_140753346delAGinsGA c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753345_140753346delAGinsGA c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333A>G c.1790T>C p.L597S RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333A>G c.1790T>C p.L597S RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF R239Q BRAF L597S melanoma sensitive Binimetinib + Encorafenib Preclinical - Pdx & cell culture Actionable In a preclinical study, the addition of Braftovi (encorafenib) to treatment with Mektovi (binimetinib) increased growth inhibition in patient-derived melanoma cells harboring BRAF L597S, as well as BRAF R239Q, in culture, and resulted in tumor shrinkage in 67% of tumors, increased inhibition of ERK phosphorylation, and increased tumor growth delay compared to either agent alone in a patient-derived xenograft (PDX) model (PMID: 29903896). 29903896
BRAF R239Q BRAF L597S melanoma sensitive Encorafenib Preclinical - Pdx & cell culture Actionable In a preclinical study, Braftovi (encorafenib) inhibited ERK activation and proliferation of patient-derived melanoma cells harboring BRAF L597S, as well as BRAF R239Q, in culture, and delayed tumor growth and induced shrinkage in 8% (1/12) of tumors in a melanoma patient-derived xenograft (PDX) model (PMID: 29903896). 29903896
BRAF R239Q BRAF L597S melanoma sensitive Binimetinib Preclinical - Pdx & cell culture Actionable In a preclinical study, Mektovi (binimetinib) inhibited growth of patient-derived melanoma cells harboring BRAF L597S, as well as BRAF R239Q, in culture, and induced tumor shrinkage in 25% (3/12) of tumors and delayed tumor growth in a patient-derived xenograft (PDX) model (PMID: 29903896). 29903896
BRAF R239Q BRAF L597S melanoma sensitive Dabrafenib + Trametinib Preclinical - Pdx & cell culture Actionable In a preclinical study, the addition of Tafinlar (dabrafenib) to treatment with Mekinist (trametinib) resulted in increased growth inhibition in a patient-derived melanoma cell line harboring BRAF L597S, as well as well as BRAF R239Q, in culture, and resulted in tumor shrinkage in 100% (13/13) of subcutaneous tumors, and decreased growth of intracranial tumors in a patient-derived xenograft (PDX) model (PMID: 29903896). 29903896