@article{bdbcf1400c3748398213fdccec9ea304,
title = "ATM haplotypes and breast cancer risk in Jewish high-risk women",
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 × 10-9), and one discriminative ATM haplotype was significantly more prevalent among breast cancer cases (33.3%) compared with controls (3.8%), (P ≤ 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 = "ATM gene, Breast cancer risk, Haplotypes, High-risk populations, Jewish breast cancer patients, SNP",
author = "M. Koren and G. Kimmel and E. Ben-Asher and I. Gal and Papa, {M. Z.} and Beckmann, {J. S.} and D. Lancet and R. Shamir and E. Friedman",
note = "Funding Information: This study was in part funded by a grant from the Israel Ministry of Science to the Crown Genome Center in the Weitzman Institute of Science; this study was also partially supported by a grant to RS from the Wolfson Foundation; this study was carried out in partial fulfillment for the degree of Masters of Science from the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv to M.K.",
year = "2006",
month = may,
day = "22",
doi = "10.1038/sj.bjc.6603062",
language = "אנגלית",
volume = "94",
pages = "1537--1543",
journal = "British Journal of Cancer",
issn = "0007-0920",
publisher = "Springer Nature",
number = "10",
}