The APC E1317Q variant in adenomatous polyps and colorectal cancers.

Details

Serval ID
serval:BIB_F13F69BBDBCC
Type
Article: article from journal or magazin.
Collection
Publications
Title
The APC E1317Q variant in adenomatous polyps and colorectal cancers.
Journal
Cancer Epidemiology, Biomarkers and Prevention
Author(s)
Hahnloser D., Petersen G.M., Rabe K., Snow K., Lindor N.M., Boardman L., Koch B., Doescher D., Wang L., Steenblock K., Thibodeau S.N.
ISSN
1055-9965 (Print)
ISSN-L
1055-9965
Publication state
Published
Issued date
2003
Volume
12
Number
10
Pages
1023-1028
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.Publication Status: ppublish
Abstract
Genetic susceptibility may play a role in many colorectal cancers (CRCs). Known syndromes such as familial adenomatous polyposis and hereditary nonpolyposis CRC account for <5% of CRCs. The germ-line missense variant of the APC gene, E1317Q, has been proposed to confer a risk for colonic adenomatous polyps (adenomas), but not for CRCs in the general population. These findings are contradictory and controversial. In the present study, 608 cases (377 patients with CRC, 145 patients with 4-100 lifetime adenomas, and 86 with < or =3 lifetime adenomas), and 679 controls (362 spouses and 317 patients with normal colonoscopy) were screened for the APC E1317Q variant. The frequency of heterozygotes for E1317Q among patients with CRC (2.4%), patients with 4-100 adenomas (1.4%), and < or =3 adenomas (3.5%) did not differ from spouse controls (2.8%). When CRC patients were examined by DNA mismatch repair status, age at onset (< or =age 50 versus >50), or family history of CRC, no differences in the frequency of E1317Q were found. The APC variant E1317Q does not appear to be associated with increased risk for colorectal neoplasia in the general population. However, when we used normal colonoscopy controls (E1317Q carrier frequency = 0.3%), the prevalence of E1317Q was significantly increased in CRC patients, in patients with < or =3 adenomas, and in CRC patients with intact mismatch repair status, suggesting a possible role for E1317Q in colorectal tumorigenesis. These results underscore the importance of carefully defining the controls to be used in comparisons of allele frequencies.
Keywords
Adenoma/etiology, Adenoma/genetics, Adenomatous Polyps/complications, Adenomatous Polyps/genetics, Adult, Aged, Case-Control Studies, Colonoscopy, Colorectal Neoplasms/etiology, Colorectal Neoplasms/genetics, DNA Repair, Female, Genes, APC, Genetic Predisposition to Disease, Humans, Male, Medical History Taking, Middle Aged, Mutation, Missense, Pedigree, Polymorphism, Genetic, Reproducibility of Results, Risk Factors
Pubmed
Web of science
Create date
07/10/2014 14:45
Last modification date
20/08/2019 17:18
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