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_001378474.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_004333.6 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_004333.5 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333A>G c.1790T>C p.L597S RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001354609.2 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_001378472.1 chr7:g.140749333A>G c.1790T>C p.L597S RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC 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 L597S Advanced Solid Tumor sensitive Vemurafenib Preclinical Actionable In a preclinical study, treatment of cells expressing BRAF L597S with the BRAF inhibitor, Zelboraf (vemurafenib), decreased activation of MEK and ERK (PMID: 22798288). 22798288
BRAF L597S Advanced Solid Tumor sensitive Trametinib Preclinical Actionable Preclinical studies demonstrated the MEK inhibitor, Mekinist (trametinib) caused decreased activation of MEK and ERK in cells expressing BRAF L597S (PMID: 22798288). 22798288
BRAF L597S melanoma predicted - sensitive TAK-733 Case Reports/Case Series Actionable In a Phase I trial, TAK-733 treatment resulted in a partial response after 2 cycles in a patient with metastatic melanoma harboring BRAF L597S, who remained progression-free for over 24 weeks (PMID: 22798288). 22798288
BRAF L597S melanoma sensitive Encorafenib Preclinical - Cell culture Actionable In a preclinical study, Braftovi (encorafenib) inhibited ERK activation and proliferation of melanoma cell lines harboring BRAF L597S in culture (PMID: 29903896). 29903896
BRAF L597S melanoma sensitive Binimetinib + Encorafenib Preclinical - Cell culture Actionable In a preclinical study, the addition of Braftovi (encorafenib) to treatment with Mektovi (binimetinib) resulted in increased growth inhibition in melanoma cell lines harboring BRAF L597S in culture (PMID: 29903896). 29903896
BRAF L597S melanoma sensitive Encorafenib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Braftovi (encorafenib) to treatment with Mekinist (trametinib) resulted in increased growth inhibition in melanoma cell lines harboring BRAF L597S in culture (PMID: 29903896). 29903896
BRAF L597S melanoma sensitive LY3009120 Preclinical - Cell culture Actionable In a preclinical study, LY3009120 inhibited growth of melanoma cells harboring BRAF L597S in culture (PMID: 29903896). 29903896
BRAF L597S melanoma predicted - sensitive Dabrafenib Preclinical - Pdx & cell culture Actionable In a preclinical study, Tafinlar (dabrafenib) treatment inhibited ERK activation and proliferation of melanoma cell lines harboring BRAF L597S in culture, but did not result in tumor shrinkage as a single agent in a melanoma patient-derived xenograft (PDX) model harboring BRAF L597S (PMID: 29903896). 29903896
BRAF L597S melanoma sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in increased growth inhibition in melanoma cell lines harboring BRAF L597S in culture, and resulted in tumor shrinkage in 89% (17/19) of tumors in a patient-derived xenograft (PDX) model harboring BRAF L597S, and treatment with Tafinlar (dabrafenib) and Mekinist (trametinib) resulted in a objective response with 34% tumor shrinkage in the patient from which the PDX model was derived from (PMID: 29903896). 29903896
BRAF L597S melanoma predicted - sensitive Trametinib Preclinical - Pdx & cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of melanoma cell lines harboring BRAF L597S in culture, and resulted in tumor shrinkage in 75% (8/12) subcutaneous tumors in one patient-derived xenograft (PDX) model harboring BRAF L597S that also harbored a BRAF variant of unknown significance, BRAF R239Q, however, was not sufficient to induce tumor shrinkage in a second PDX model with BRAF L597S, resulting only in tumor growth delay (PMID: 29903896). 29903896
BRAF L597S melanoma sensitive Cobimetinib Preclinical - Cell culture Actionable In a preclinical study, Cotellic (cobimetinib) inhibited growth of melanoma cell lines harboring BRAF L597S in culture (PMID: 29903896). 29903896
BRAF L597S melanoma sensitive Binimetinib Preclinical - Cell culture Actionable In a preclinical study, Mektovi (binimetinib) inhibited growth of melanoma cell lines harboring BRAF L597S in culture (PMID: 29903896). 29903896