Mosaic FAP

A germline mosaicism mutation where the APC mutation has been found to only affect a subset of cells in specific organs rather than in every cell of the body.

Attenuated FAP (AFAP)

A variant of familial adenomatous polyposis characterized by an increased risk for colorectal cancer but with fewer polyps (average of 30) and later age of onset of polyps and cancer than is typically seen in FAP. Extra-colonic manifestations are also associated with...

Extracolonic Manifestations

Often present in FAP, including polyps of the stomach, duodenum and small intestine; and osteomas, dental abnormalities (supernumerary teeth, dental tumors, hypodontia, and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), and soft tissue...

Familial Adenomatous Polyposis (FAP)

A rare inherited cancer syndrome characterized by hundreds to thousands of precancerous colorectal polyps. If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age. The standard treatment for FAP is colon...