RAF1

The RAF1 gene provides instructions for making a protein that is involved in a pathway that regulates cell division, cellular self-destruction (apoptosis), cell differentiation (the process by which cells mature to carry out specific functions), and cell movement.

The RAF1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.

Noonan syndrome - caused by mutations in the RAF1 gene

More than 10 mutations causing Noonan syndrome have been identified in the RAF1 gene. These mutations all change one protein building block (amino acid) in the RAF1 protein. These changes interrupt the normal processes of the RAF1 protein, causing problems with cell division, apoptosis, cell differentiation, and cell migration. Researchers believe that this disruption in normal cell processes plays a role in the signs and symptoms of Noonan syndrome, specifically cardiac abnormalities. It has been noted that those with Noonan syndrome caused by a RAF1 mutation have a greater incidence of heart disease, specifically hypertrophic cardiomyopathy, than other people with Noonan syndrome.

other cancers - increased risk from variations of the RAF1 gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited. Somatic mutations in the RAF1 gene are involved in the development of several types of cancer. These mutations lead to a RAF1 protein that is always active and can direct cells to grow and divide uncontrollably. Studies suggest that RAF1 gene mutations are common in ovarian and stomach cancers, as well as juvenile myelomonocytic leukemia (an early onset blood cancer). Mutations in the RAF1 gene may also be found in other types of cancer.