Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk

Jiali Han, Christopher Haiman, Tianhua Niu, Qun Guo, David G. Cox, Walter C. Willett, Susan E. Hankinson, David J. Hunter

Research output: Contribution to journalArticle

38 Scopus citations

Abstract

Purpose We comprehensively evaluated genetic variants in DNA repair genes with premenopausal breast cancer risk. Methods In this nested case-control study of 239 prospectively ascertained premenopausal breast cancer cases and 477 matched controls within the Nurses' Health Study II, we evaluated 1,463 genetic variants in 60 candidate genes across five DNA repair pathways, along with DNA polymerases, Fanconi Anemia complementation groups, and other related genes. Results Four variants were associated with breast cancer risk with a significance level of <0.01; two in the XPF gene and two in the XRCC3 gene. An increased risk was found in those harboring a greater number of missense putative risk alleles (a priori defined in an independent study) in the non-homologous end-joining (NHEJ) repair pathway of double-strand breaks (odds ratio (OR) per risk allele, 1.37 (95% confidence interval (CI), 1.03-1.82), P trend, 0.03). Conclusions This study implicates variants of genes in the double-strand break repair pathway in the etiology of premenopausal breast cancer.

Original languageEnglish (US)
Pages (from-to)613-622
Number of pages10
JournalBreast Cancer Research and Treatment
Volume115
Issue number3
DOIs
StatePublished - Jun 1 2009
Externally publishedYes

Keywords

  • Breast cancer
  • DNA repair
  • Polymorphism
  • Premenopausal women

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Han, J., Haiman, C., Niu, T., Guo, Q., Cox, D. G., Willett, W. C., Hankinson, S. E., & Hunter, D. J. (2009). Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk. Breast Cancer Research and Treatment, 115(3), 613-622. https://doi.org/10.1007/s10549-008-0089-z