BRAF V600E mutation
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Indications
- elibigiblity for treatment of metastatic melanoma with vemurafenib (Zelboraf), dabrafenib (Tafinlar) or trametinib (Mekinist)
- treatment of metastatic non-small cell lung cancer with dabrafenib + trametinib[4]
- Erdheim-Chester disease (54%)
Clinical significance
- mutation present in about 1/2 of late-stage melanomas
- V600E BRAF mutation associated with poorest prognosis in colorectal adenocarcinoma with liver metastases[3]
Procedure
- polymerase chain reaction to identify point mutation Val-600 to Glu-600 in the BRAF gene
More general terms
Additional terms
- cutaneous melanoma
- serine/threonine protein kinase B-raf; proto-oncogene B-Raf; p94; v-Raf murine sarcoma viral oncogene homolog B1 (BRAF BRAF1 RAFB1)
References
- ↑ FDA NEWS RELEASE: Aug. 17, 2011 FDA approves Zelboraf and companion diagnostic test for late-stage skin cancer
- ↑ FDA News Release: May 29, 2013 FDA approves two drugs, companion diagnostic test for advanced skin cancer. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm354199
- ↑ 3.0 3.1 Margonis GA, Buettner S, Andreatos N et al Association of BRAF Mutations With Survival and Recurrence in Surgically Treated Patients With Metastatic Colorectal Liver Cancer. JAMA Surg. Published online May 16, 2018. PMID: https://www.ncbi.nlm.nih.gov/pubmed/29799910 https://jamanetwork.com/journals/jamasurgery/fullarticle/2680564
- ↑ 4.0 4.1 Planchard D, Smit EF, Groen HJM et al Dabrafenib plus trametinib in patients with previously untreated BRAF-V600E-mutant metastatic non-small-cell lung cancer: an open-label, phase 2 trial. Lancet Oncol. 2017 Oct;18(10):1307-1316. PMID: https://www.ncbi.nlm.nih.gov/pubmed/28919011