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01-06-2009 | Epidemiology

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

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

Published in: Breast Cancer Research and Treatment | Issue 3/2009

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.

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Title: Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk
Authors: Jiali Han
Christopher Haiman
Tianhua Niu
Qun Guo
David G. Cox
Walter C. Willett
Susan E. Hankinson
David J. Hunter
Publication date: 01-06-2009
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 3/2009
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-008-0089-z

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