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Genetic variations in DNA repair may impact repair functions, DNA damage and breast cancer risk. Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case–control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways—(i) base excision repair:ADPRT V762A,APE1 D148E,XRCC1 R194W/R280H/R399QandPOLD1 R119H; (ii) nucleotide excision repair:ERCC2 D312N/K751Q,ERCC4 R415Q,ERCC5 D1104HandXPC A499V/K939Q; (iii) mismatch repair:MLH1 I219V,MSH3 R940Q/T1036AandMSH6 G39Eand (iv) double-strand break repair:NBS1 E185QandXRCC3 T241M. In Caucasians, breast cancer risk was significantly associated withADPRT 762VV[odds ratio (OR) = 1.45; 95% confidence interval (CI) = 1.03, 2.03],APE1 148DD(OR = 1.44; 95% CI = 1.03, 2.00),MLH1 219II/IV(OR = 1.87; 95% CI = 1.11, 3.16) andERCC4 415QQ(OR = 8.64; 95% CI = 1.04, 72.02) genotypes. With a limited sample size, we did not observe any significant association in African-Americans. However, there were significant trends in breast cancer risk with increasing numbers of risk genotypes forADPRT 762VV,APE1 148DD,ERCC4 415RQ/QQandMLH1 219II/IV(P  trend&lt; 0.001) in Caucasians andADPRT 762VA,ERCC2 751KQ/QQandNBS1 185EQ/QQin African-Americans (P  trend= 0.006), respectively. Our results suggest that combined nsSNPs in multiple DNA repair pathways may contribute to breast cancer risk and larger studies are warranted to further evaluate polygenic models of DNA repair in breast cancer risk.

Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk