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BRAF V600E mutation
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%)
Procedure:
- polymerase chain reaction to identify point mutation Val-600 to Glu-600 in the BRAF gene
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]
Related
cutaneous melanoma
serine/threonine protein kinase B-raf; proto-oncogene B-Raf; p94; v-Raf murine sarcoma viral oncogene homolog B1 (BRAF BRAF1 RAFB1)
General
BRAF V600 mutation (THxID BRAF)
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
- 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: 29799910
https://jamanetwork.com/journals/jamasurgery/fullarticle/2680564
- 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: 28919011