BRAF mutation
Pronunciation: BEE-raf
Also written as: BRAF — B-Raf Proto-Oncogene
A genetic alteration in the BRAF gene commonly found in melanoma and certain other cancers, targetable with specific inhibitors.
Full Definition
BRAF mutations are genetic alterations in the BRAF gene that encode a protein in the MAPK signaling pathway. The most common mutation is BRAF V600E, found in approximately 50% of melanomas and smaller percentages of colorectal cancers, thyroid cancers, and other malignancies. These mutations lead to constitutive activation of the MAPK pathway, driving tumor growth. BRAF-mutated tumors can be treated with targeted therapies including BRAF inhibitors (vemurafenib, dabrafenib) and MEK inhibitors, often used in combination.
Usage
Usage note: Specify the exact mutation type (e.g., V600E) when known; distinguish from other RAS pathway mutations.
In Context
- "Genetic testing confirmed a BRAF V600E mutation in the melanoma specimen." — pathology report
- "The patient's BRAF mutation made them eligible for targeted combination therapy." — treatment planning note