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)
    • DNET
    • ganglioglioma
    • pilocytic astrocytoma
    • pleomorphic xanthoastrocytoma
  • 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)