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Background  Inter-individual variation in DNA repair capacity is thought to modulate breast cancer risk. The phenotypic mutagen sensitivity assay (MSA) measures DNA strand breaks in lymphocytes; women with familial and sporadic breast cancers have a higher mean number of breaks per cell (MBPC) then women without breast cancer. Here, we explore the relationships between the MSA and the  Rad51  gene, which encodes a DNA repair enzyme that interacts with BRCA1 and BRCA2, in  BRCA1  mutation carriers and women with sporadic breast cancer.    Methods  Peripheral blood lymphoblasts from women with known  BRCA1  mutations underwent the MSA (n = 138 among 20 families).  BRCA1  and  Rad51  genotyping and sequencing were performed to identify SNPs and haplotypes associated with the MSA. Positive associations from the study in high-risk families were subsequently examined in a population-based case-control study of breast cancer (n = 1170 cases and 2115 controls).    Results  Breast cancer diagnosis was significantly associated with the MSA among women from  BRCA1  families (OR = 3.2 95%CI: 1.5-6.7; p = 0.004). The  Rad51  5'UTR 135 C>G genotype (OR = 3.64; 95% CI: 1.38, 9.54; p = 0.02), one  BRCA1  haplotype (p = 0.03) and in a polygenic model, the E1038G and Q356R  BRCA1  SNPs were significantly associated with MBPC (p = 0.009 and 0.002, respectively). The  Rad51  5'UTR 135C genotype was not associated with breast cancer risk in the population-based study.    Conclusions  Mutagen sensitivity might be a useful biomarker of penetrance among women with BRCA1 mutations because the MSA phenotype is partially explained by genetic variants in  BRCA1  and  Rad51.

Association of Rad51 polymorphism with DNA repair in BRCA1 mutation carriers and sporadic breast cancer risk