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Comparative Study
. 2009 Jun;115(3):613-22.
doi: 10.1007/s10549-008-0089-z. Epub 2008 Jun 13.

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

Jiali Han  1 , Christopher Haiman, Tianhua Niu, Qun Guo, David G Cox, Walter C Willett, Susan E Hankinson, David J Hunter
Affiliations
Comparative Study

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

Jiali Han et al. Breast Cancer Res Treat. 2009 Jun.

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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Figures

Figure 1
Figure 1
The −log10 (P value for the association with breast cancer risk) and LD R2 plot generated for (a) XRCC3 gene (15 SNPs, 477 control subjects), and (b) XPF (ERCC4) gene (17 SNPs, 477 control subjects) respectively.
Figure 1
Figure 1
The −log10 (P value for the association with breast cancer risk) and LD R2 plot generated for (a) XRCC3 gene (15 SNPs, 477 control subjects), and (b) XPF (ERCC4) gene (17 SNPs, 477 control subjects) respectively.
See this image and copyright information in PMC

References

    1. Ponder BA. Cancer genetics. Nature. 2001;411(6835):336–341. - PubMed
    1. Balmain A, Gray J, Ponder B. The genetics and genomics of cancer. Nat Genet. 2003;33(Suppl):238–244. - PubMed
    1. Helzlsouer KJ, Harris EL, Parshad R, Fogel S, Bigbee WL, Sanford KK. Familial clustering of breast cancer: possible interaction between DNA repair proficiency and radiation exposure in the development of breast cancer. Int J Cancer. 1995;64(1):14–17. - PubMed
    1. Helzlsouer KJ, Harris EL, Parshad R, Perry HR, Price FM, Sanford KK. DNA repair proficiency: potential susceptiblity factor for breast cancer. J Natl Cancer Inst. 1996;88(11):754–755. - PubMed
    1. Parshad R, Price FM, Bohr VA, Cowans KH, Zujewski JA, Sanford KK. Deficient DNA repair capacity, a predisposing factor in breast cancer. Br J Cancer. 1996;74(1):1–5. - PMC - PubMed

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