Techniques in Coloproctology

, Volume 8, Supplement 2, pp s305–s308

Familial adenomatous polyposis: genetics and epidemiology

FAMILIAR ADENOMATOUS POLYPOSIS

DOI: 10.1007/s10151-004-0182-1

Cite this article as:
Varesco, L. Tech Coloproctol (2004) 8(Suppl 2): s305. doi:10.1007/s10151-004-0182-1

Abstract

Familial adenomatous polyposis (FAP) is a rare genetic disease characterised by the development of hundreds to thousands of adenomatous polyps along the colon–rectum leading to cancer at a young age, if left untreated. In 1991, the gene responsible for the vast majority of FAP cases, the adenomatous polyposis coli (APC) gene, was identified. In 5–30% of FAP patients, no APC mutation is identifiable by current genetic testing. In 2003, it was shown that ‘APC-negative’ FAP patients may carry biallelic mutations in a different gene, the MYH gene. Genetics of FAP will be discussed in relation to its present clinical applications. If the hereditable mutation(s) is/are known in a family, it is possible to plan endoscopic surveillance only for those who actually inherited the mutation(s). Also, genetic testing may be of help in the diagnosis of atypical adenomatous polyposis cases and in the clinical management of affected individuals.

Key words

FAP AAPC APC MYH 

Copyright information

© Springer-Verlag Italia 2004

Authors and Affiliations

  1. 1.Center for Hereditary TumoursNational Institute for Cancer ResearchGenoaItaly