Familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is a dominantly inherited familial can cer syndrome characterized by an increased predisposition to colorectal can cer and other benign and malignant extracolonic lesions. FAP has been linke d to germline mutations of the adenomatous polyposis coli (APC) gene that e ncodes 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 t he clinical and genetic features of this disorder and provide information o n the diagnostic approaches and treatment options available for this diseas e. Semin. Surg. Oncol. 18:314-323. (C) 2000 Wiley-Liss, Inc.