Han J et al. - In a trial to comprehensively evaluate genetic variants in DNA repair genes with premenopausal breast cancer risk, it was shown that the results implicate variants of genes in the double-strand break repair pathway in the etiology of premenopausal breast cancer Methods
Of 239 prospectively ascertained premenopausal breast cancer cases and 477 matched controls, 1463 genetic variants in 60 candidate genes across 5 DNA repair pathways were evaluated along with DNA polymerases, Fanconi Anemia complementation groups, and other related genes
Results
4 variants were associated with breast cancer risk with a significance level of <0.01; 2 in the XPF gene and 2 in the XRCC3 gene
An increased risk was found in those harboring a greater number of missense putative risk alleles in the non-homologous end-joining repair pathway of double-strand breaks
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