BRAF gene is a member of the mitogen-activated protein/extracellular signal-regulated (MAP/ERK) kinase pathway, the dysregulation of which has been associated with different types of cancers. BRAF V600E mutations occur frequently in cancers, and it’s detection aids in the diagnosis of specific cancer types including anaplastic and papillary thyroid carcinoma, hairy cell leukemia, and papillary craniopharyngioma. BRAF testing for the V600E mutation is also used as an alternative molecular approach to distinguish between sporadic and Lynch syndrome-associated colorectal cancer cases.

Apart from these, BRAF V600E alterations are tested for the purpose of predicting response or resistance to specific targeted therapies in cancers such as melanoma, colorectal cancer, and lung cancer.