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The genetics of FAP and FAP-like syndromes.
Fam Cancer. 2006; 5(3):221-6.FC

Abstract

The presence of multiple adenomatous polyps in the large bowel confers a high lifetime risk of colorectal cancer. Although many cases of classical familial adenomatous polyposis (> 100 polyps) can be accounted for by mutations in the adenomatous polyposis coli (APC) gene, a large group of patients remains with multiple (5-100) adenomas and in whom there is no detectable APC mutation. Recently two new genetic variants have been found to be associated with multiple colorectal adenomas and cancer, MYH/MUTYH on chromosome 1p and the HMPS/CRAC1 locus on chromosome 15q13-q14. New information also continues to emerge regarding the less common hamartomatous polyposis conditions, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome. In approximately half to two thirds of these families, germline genetic variants can now be uncovered. In this review we draw together some of the most recent information pertinent to the molecular pathogenesis of colorectal polyposis.

Authors+Show Affiliations

Molecular and Population Genetics Laboratory, Cancer Research UK, London, WC2A 3PX, UK.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16998667

Citation

Lipton, Lara, and Ian Tomlinson. "The Genetics of FAP and FAP-like Syndromes." Familial Cancer, vol. 5, no. 3, 2006, pp. 221-6.
Lipton L, Tomlinson I. The genetics of FAP and FAP-like syndromes. Fam Cancer. 2006;5(3):221-6.
Lipton, L., & Tomlinson, I. (2006). The genetics of FAP and FAP-like syndromes. Familial Cancer, 5(3), 221-6.
Lipton L, Tomlinson I. The Genetics of FAP and FAP-like Syndromes. Fam Cancer. 2006;5(3):221-6. PubMed PMID: 16998667.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The genetics of FAP and FAP-like syndromes. AU - Lipton,Lara, AU - Tomlinson,Ian, PY - 2006/9/26/pubmed PY - 2006/12/21/medline PY - 2006/9/26/entrez SP - 221 EP - 6 JF - Familial cancer JO - Fam. Cancer VL - 5 IS - 3 N2 - The presence of multiple adenomatous polyps in the large bowel confers a high lifetime risk of colorectal cancer. Although many cases of classical familial adenomatous polyposis (> 100 polyps) can be accounted for by mutations in the adenomatous polyposis coli (APC) gene, a large group of patients remains with multiple (5-100) adenomas and in whom there is no detectable APC mutation. Recently two new genetic variants have been found to be associated with multiple colorectal adenomas and cancer, MYH/MUTYH on chromosome 1p and the HMPS/CRAC1 locus on chromosome 15q13-q14. New information also continues to emerge regarding the less common hamartomatous polyposis conditions, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome. In approximately half to two thirds of these families, germline genetic variants can now be uncovered. In this review we draw together some of the most recent information pertinent to the molecular pathogenesis of colorectal polyposis. SN - 1389-9600 UR - https://www.unboundmedicine.com/medline/citation/16998667/The_genetics_of_FAP_and_FAP_like_syndromes_ L2 - https://doi.org/10.1007/s10689-005-5673-3 DB - PRIME DP - Unbound Medicine ER -