BRAF是致癌基因，编码一种丝氨酸/苏氨酸激酶，是一种细胞内激酶。BRAF编码蛋白在丝裂原活化蛋白激酶（MAPK）级联的调节中起关键作用，调节参与细胞功能的基因表达，包含细胞增殖。BRAF胚系突变在大部分的黑色素瘤、甲状腺癌、组织细胞肿瘤中被观察到，另外也已经在一小部分的肺癌和结直肠癌中观察到。BRAF常见的体细胞突变为p.V600E,该突变解除了导致组成型BRAF活化的蛋白质激酶活性，可以作为独立于RAS或上游活化的单体发出信号。BRAF体细胞突变经常在黑色素瘤、甲状腺癌和肺癌等肿瘤中发生。

BRAF is a serine/threonine kinase that plays a key role in the regulation of the mitogen-activated protein kinase (MAPK) cascade, which under physiologic conditions regulates the expression of genes involved in cellular functions, including proliferation. Genetic alterations in BRAF are found in a large percentage of melanomas, thyroid cancers and histiocytic neoplasms as well as a small fraction of lung and colorectal cancers. The most common BRAF point mutation is V600E, which deregulates the protein's kinase activity leading to constitutive BRAF activation, as BRAF V600E can signal as a monomer independently of RAS or upstream activation. Other BRAF mutations have been found that affect the protein's propensity to dimerize. The product of these alterations is a BRAF kinase that can activate MAPK signaling in an unregulated manner and, in some instances, is directly responsible for cancer growth. Inhibitors of mutant BRAF, including vemurafenib and dabrafenib, are FDA-approved for the treatment of late-stage or unresectable melanoma.

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