Gene Accession
P15056
Gene Alias
Protein names Recommended name Serine/threonine-protein kinase B-raf Curated EC number EC:2.7.11.1 2 Publications (UniProtKB | ENZYME | Rhea) Alternative names Proto-oncogene B-Raf p94 v-Raf murine sarcoma viral oncogene homolog B1 Gene names Name BRAF Imported Synonyms BRAF1, RAFB1
Background
BRAF G466V is present in 0.08% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, melanoma, and endometrial carcinoma having the greatest prevalence. BRAF G466V is a missense mutation which impairs BRAF kinase activity but paradoxically activates MEK and ERK through transactivation of c-RAF. This variant is associated with decreased cell proliferation and cell viability as compared to wild-type BRAF. This variant is a rare BRAF mutation and accounts for < 1% of BRAF mutations in colorectal adenocarcinoma. A single preclinical study of BRAF G466V in colon cancer demonstrated sensitivity to anti-EGFR tyrosine kinase therapy (cetuximab) and a MEK inhibitor (trametinib), however, there was no benefit seen with the RAF inhibitor vermurafinib. The clinicopathologic significance of BRAF G466V remains to be fully elucidated.