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BRAF is a human gene that encodes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, while the protein is more formally known as serine/threonine-protein kinase B-Raf.[5][6]
The B-Raf protein is involved in sending signals inside cells which are involved in directing cell growth. In 2002, it was shown to be mutated in some human cancers.[7]
Certain other inherited BRAF mutations cause birth defects.
Drugs that treat cancers driven by BRAF mutations have been developed. Two of these drugs, vemurafenib[8] and dabrafenib, are approved by FDA for treatment of late-stage melanoma. Vemurafenib was the first approved drug to come out of fragment-based drug discovery.[9]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000157764 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002413 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Sithanandam G, Kolch W, Duh FM, Rapp UR (December 1990). "Complete coding sequence of a human B-raf cDNA and detection of B-raf protein kinase with isozyme specific antibodies". Oncogene. 5 (12): 1775–1780. PMID 2284096.
- ^ Sithanandam G, Druck T, Cannizzaro LA, Leuzzi G, Huebner K, Rapp UR (April 1992). "B-raf and a B-raf pseudogene are located on 7q in man". Oncogene. 7 (4): 795–799. PMID 1565476.
- ^ Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, et al. (June 2002). "Mutations of the BRAF gene in human cancer" (PDF). Nature. 417 (6892): 949–954. Bibcode:2002Natur.417..949D. doi:10.1038/nature00766. PMID 12068308. S2CID 3071547.
- ^ "FDA Approves Zelboraf (Vemurafenib) and Companion Diagnostic for BRAF Mutation-Positive Metastatic Melanoma, a Deadly Form of Skin Cancer" (Press release). Genentech. Retrieved 2011-08-17.
- ^ Erlanson DA, Fesik SW, Hubbard RE, Jahnke W, Jhoti H (September 2016). "Twenty years on: the impact of fragments on drug discovery". Nature Reviews. Drug Discovery. 15 (9): 605–619. doi:10.1038/nrd.2016.109. PMID 27417849. S2CID 19634793.