BRAF

The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This protein is part of a signaling pathway known as the RAS/MAPK pathway, which helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). Chemical signaling through this pathway is essential for normal development before birth.

The BRAF gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.

cardiofaciocutaneous syndrome - caused by mutations in the BRAF gene

Mutations in the BRAF gene are the most common cause of cardiofaciocutaneous syndrome. At least 20 BRAF mutations have been identified in people with this disorder. These mutations change single protein building blocks (amino acids) in the BRAF protein. Almost all of these genetic changes abnormally activate the protein, which disrupts the tightly regulated RAS/MAPK signaling pathway in cells throughout the body. The altered signaling interferes with the normal development of many organs and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome.

cancers - associated with the BRAF gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the BRAF gene are common in several types of cancer. Normally, the BRAF protein is switched on and off in response to signals that control cell growth and development. Somatic mutations cause the BRAF protein to be continuously active and to relay messages to the nucleus even in the absence of these chemical signals. The overactive protein may contribute to the growth of cancers by allowing abnormal cells to grow and divide uncontrollably.

The most common BRAF mutation found in human cancers replaces the amino acid valine with the amino acid glutamic acid at position 600 in the BRAF protein (written as Val600Glu or V600E). This mutation frequently has been found in an aggressive form of skin cancer called melanoma and in cancers of the colon and rectum, ovary, and thyroid gland. Several other somatic BRAF mutations have also been associated with cancer.