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BRAF L597V
GeneBRAF
Variantmissense
Amino Acid ChangeL597V
DNA Change (Coding Nucleotide)1789C>G
Transcript ID (GRCh37/hg19)ENST00000288602
Codon597
Exon15
Genomic Coordinates (GRCh37/hg19)7:140453146-140453146
COSMIC ID470
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Tier 1
BRAF
Variants
BRAF L597V
BRAF L597R
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

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. BRAF mutations are present in approximately 50% to 60% of cutaneous melanomas and are also present at lower frequencies in other melanoma subtypes. A point mutation, L597R, is located in the kinase domain of BRAF. A case report has shown that a metastatic melanoma with this mutation is sensitive to BRAF inhibitors. In addition, it has been suggested that BRAF L597 mutations could potentially be responsive to MEK inhibitors. Drug: Trametinib BGB659

Last updated: 2018-04-06 15:07:07 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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