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Familial adenomatous polyposis: genetics and epidemiology.
Tech Coloproctol. 2004 Dec; 8 Suppl 2:s305-8.TC

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.

Authors+Show Affiliations

Center for Hereditary Tumours, National Institute for Cancer Research, Genoa, Italy. liliana.varesco@istge.it

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

15666112

Citation

Varesco, L. "Familial Adenomatous Polyposis: Genetics and Epidemiology." Techniques in Coloproctology, vol. 8 Suppl 2, 2004, pp. s305-8.
Varesco L. Familial adenomatous polyposis: genetics and epidemiology. Tech Coloproctol. 2004;8 Suppl 2:s305-8.
Varesco, L. (2004). Familial adenomatous polyposis: genetics and epidemiology. Techniques in Coloproctology, 8 Suppl 2, s305-8.
Varesco L. Familial Adenomatous Polyposis: Genetics and Epidemiology. Tech Coloproctol. 2004;8 Suppl 2:s305-8. PubMed PMID: 15666112.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial adenomatous polyposis: genetics and epidemiology. A1 - Varesco,L, PY - 2005/1/25/pubmed PY - 2005/4/13/medline PY - 2005/1/25/entrez SP - s305 EP - 8 JF - Techniques in coloproctology JO - Tech Coloproctol VL - 8 Suppl 2 N2 - 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. SN - 1123-6337 UR - https://www.unboundmedicine.com/medline/citation/15666112/Familial_adenomatous_polyposis:_genetics_and_epidemiology_ L2 - https://dx.doi.org/10.1007/s10151-004-0182-1 DB - PRIME DP - Unbound Medicine ER -