Familial adenomatous polyposis

✍ Scribed by Geeta Lal; Steven Gallinger

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 578 KB
• Volume: 18
• Category: Article
• ISSN: 8756-0437
• DOI: 10.1002/(sici)1098-2388(200006)18:4<314::aid-ssu6>3.0.co;2-9

✦ Synopsis

Familial adenomatous polyposis (FAP) is a dominantly inherited familial cancer syndrome characterized by an increased predisposition to colorectal cancer and other benign and malignant extracolonic 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.