What gene is associated with Attenuated FAP?

Attenuated Familial Adenomatous Polyposis (AFAP) is primarily associated with mutations in the APC gene. This condition is a milder form of Familial Adenomatous Polyposis (FAP) and is characterized by the development of fewer colorectal polyps, usually fewer than 100, which can lead to colorectal cancer if not monitored and managed appropriately.

The APC gene is a tumor suppressor gene that plays a critical role in the regulation of cell growth and apoptosis. Mutations in this gene disrupt normal cellular signaling pathways, leading to unchecked cell division and the formation of polyps in the colon and rectum. Individuals with AFAP typically present at a later age than those with classic FAP, and the risk for colorectal cancer remains significant, thus providing the rationale for ongoing surveillance.

While the other genes listed are linked to different syndromes or conditions—BRCA1 is primarily associated with breast and ovarian cancer, MUTYH is involved in MUTYH-associated polyposis, and SMAD4 is connected with hereditary hemorrhagic telangiectasia and certain other syndromes—none are directly implicated in AFAP like the APC gene. Thus, the identification of APC as the pertinent gene is pivotal when considering the