Familial adenomatous polyposis.
Familial adenomatous polyposis (FAP) is a dominantly inherited familial cancer syndrome characterized by an increased predisposition to colorectal cancer and other benign and malignant extra-colonic lesions. FAP has been linked to germline mutations of the adenomatous polyposis coli (APC) gene that encodes a protein with 2,843 amino acids that has important functions in the regulation of cell growth. A genotype-phenotype correlation has also been observed between mutations in the APC gene and polyp phenotype. We review the clinical and genetic features of this disorder and provide information on the diagnostic approaches and treatment options available for this disease.
Lal
G
G
Department of Surgery, University of Toronto, The Division of General Surgery, Toronto, Ontario, Canada.
Gallinger
S
S
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003937:Diagnosis, Differential; D017491:Genes, APC / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D011127:Polyps / Q000473:pathology