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

M. Koren, G. Kimmel, E. Ben-Asher, I. Gal, M. Z. Papa, J. S. Beckmann, D. Lancet, R. Shamir, E. Friedman

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1537-1543
Number of pages7
JournalBritish Journal of Cancer
Volume94
Issue number10
DOIs
StatePublished - 22 May 2006

Keywords

  • ATM gene
  • Breast cancer risk
  • Haplotypes
  • High-risk populations
  • Jewish breast cancer patients
  • SNP

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