ATM haplotypes and breast cancer risk in Jewish high-risk women.

Details

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State: Public
Version: Final published version
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Serval ID
serval:BIB_FE15C78E85AB
Type
Article: article from journal or magazin.
Collection
Publications
Title
ATM haplotypes and breast cancer risk in Jewish high-risk women.
Journal
British journal of cancer
Author(s)
Koren M., Kimmel G., Ben-Asher E., Gal I., Papa M.Z., Beckmann J.S., Lancet D., Shamir R., Friedman E.
ISSN
0007-0920 (Print)
ISSN-L
0007-0920
Publication state
Published
Issued date
22/05/2006
Peer-reviewed
Oui
Volume
94
Number
10
Pages
1537-1543
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
While genetic factors clearly play a role in conferring breast cancer risk, the contribution of ATM gene mutations to breast cancer is still unsettled. To shed light on this issue, ATM haplotypes were constructed using eight SNPs spanning the ATM gene region (142 kb) in ethnically diverse non-Ashkenazi Jewish controls (n=118) and high-risk (n=142) women. Of the 28 haplotypes noted, four were encountered in frequencies of 5% or more and accounted for 85% of all haplotypes. Subsequently, ATM haplotyping of high-risk, non-Ashkenazi Jews was performed on 66 women with breast cancer and 76 asymptomatic. One SNP (rs228589) was significantly more prevalent among breast cancer cases compared with controls (P=4 x 10(-9)), and one discriminative ATM haplotype was significantly more prevalent among breast cancer cases (33.3%) compared with controls (3.8%), (P< or =10(-10)). There was no significant difference in the SNP and haplotype distribution between asymptomatic high-risk and symptomatic women as a function of disease status. We conclude that a specific ATM SNP and a specific haplotype are associated with increased breast cancer risk in high-risk non-Ashkenazi Jews.
Keywords
Adult, Aged, Ataxia Telangiectasia/genetics, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms/genetics, Case-Control Studies, Cell Cycle Proteins/genetics, DNA-Binding Proteins/genetics, Female, Haplotypes/genetics, Humans, Israel/ethnology, Jews/genetics, Middle Aged, Polymorphism, Single Nucleotide/genetics, Protein Serine-Threonine Kinases/genetics, Risk Factors, Tumor Suppressor Proteins/genetics
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 17:18
Last modification date
09/08/2024 14:18
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