BRAF
BRAF (B-Raf proto-oncogene serine/threonine-protein kinase) is a proto-oncogene, encoding for a serine/threonine protein kinase. Mutations of BRAF are the most common alteration of the RAS/MAPK pathway and these have been identified in a variety of tumors and congenital syndromes including :
- tumors
- central nervous system (especially pediatric low-grade gliomas)
- colorectal carcinoma
- lung cancer (adenocarcinoma and non-small cell)
- malignant melanoma
- non-Hodgkin lymphoma
- thyroid carcinoma
- ovarian cancer
- congenital syndromes
- craniofaciocutaneous syndrome
Mutations
A variety of mutations are recognized, the most commonly encountered being:
- BRAF V600E point mutation (most common)
- BRAF fusion (KIAA1549:BRAF fusion)