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Defective DNA repair may contribute to early age and late stage at time of diagnosis and mutations in critical tumor suppressor genes, such asTP53in breast cancer. Using DNA samples from 436 breast cancer cases (374 Caucasians and 62 African-Americans), we tested these associations with 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) double-strand break repair:NBS1 E185QandXRCC3 T241M; (iii) mismatch repair:MLH1 I219V,MSH3 R940Q/  T1036AandMSH6 G39Eand (iv) nucleotide excision repair:ERCC2 D312N/  K751Q,ERCC4 R415Q,ERCC5 D1104HandXPC A499V/K939Q. Younger age at diagnosis (&lt;50) was associated withERCC2 312 DN/NNgenotypes [odds ratio (OR) = 1.76; 95% confidence interval (CI) = 1.10, 2.81] and NBS1 185 QQ genotype (OR = 3.09; 95% CI = 1.47, 6.49). TheXPC 939 QQgenotype was associated withTP53mutations (OR = 5.80; 95% CI = 2.23, 15.09). There was a significant trend associating younger age at diagnosis (&lt;50) with increasing numbers of risk genotypes forERCC2 312 DN/NN,MSH6 39 EEandNBS1 185 QQ(P  trend&lt; 0.001). A similar significant trend was also observed associatingTP53mutations with increasing numbers of risk genotypes forXRCC1 399 QQ,XPC 939 QQ,ERCC4 415 QQandXPC 499 AA(P  trend&lt; 0.001). Our pilot data suggest that nsSNPs of multiple DNA repair pathways are associated with younger age at diagnosis andTP53mutations in breast cancer and larger studies are warranted to further evaluate these associations.

Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer