Familial adenomatous polyposis: The practical applications of clinical and molecular screening

• Published in: Familial cancer Vol. 5; no. 3; pp. 227 - 235
• Main Authors: Rozen, Paul, Macrae, Finlay
• Format: Journal Article
• Language: English
• Published: Netherlands Springer Nature B.V 01-09-2006
• Subjects: Adenomatous Polyposis Coli - diagnosis; Adenomatous Polyposis Coli - genetics; Adenomatous Polyposis Coli - therapy; Adenomatous Polyposis Coli Protein - genetics; Germ-Line Mutation - genetics; Humans; Molecular Diagnostic Techniques; Phenotype
• ISSN: 1389-9600; 1573-7292
• DOI: 10.1007/s10689-005-5674-2

Familial adenomatous polyposis (FAP) is an autosomal dominant condition mostly due to a mutation of the APC gene on the chromosome 5q. Carriers have an almost 100% chance of developing colorectal cancer after having multiple (typically 100s to 1000s) of adenomatous polyps. It is usually readily identified through this phenotype of multiple adenomas. Correlations between the location of the family-specific mutation on the APC gene and clinical manifestations of the disease are of some assistance in clinical management, though there is heterogeneity in clinical course even between family members with the same mutation. FAP is important to recognize, as there are disease-specific management implications with respect to offering mutational analysis of the APC (and perhaps other) genes for predictive testing of other family members, endoscopic diagnostic procedures, surveillance planning, and surgical management. Extra-colonic manifestations, including duodenal polyposis, desmoid disease and other tumours, can dominate clinical care after colectomy. The inheritable and lethal nature of the disease, together with the availability of effective treatment strategies, makes a sensitive clinical and psychosocial approach important to maximize compliance and good outcomes for all members of affected families.