BRAF

About BRAF

BRAF on chromosome 7q34 encodes a serine threonine kinase in the RAS RAF MEK ERK signaling pathway, which relays growth signals from the cell surface to the nucleus. Somatic mutations in BRAF are found in many cancers, most notably melanoma, where roughly half of tumors carry them, as well as papillary thyroid cancer, hairy cell leukemia, and a subset of colorectal and lung cancers. The most common change is V600E, a single amino acid substitution that locks the kinase in an active state, driving uncontrolled cell growth. BRAF inhibitors such as vemurafenib and dabrafenib, typically combined with MEK inhibitors, were among the defining successes of targeted cancer therapy. Germline BRAF variants cause cardiofaciocutaneous syndrome, one of the RASopathies, a group of developmental disorders caused by changes in the same signaling pathway.