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Background  Despite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in  MTHFR ,  XRCC1  and  OGG1  genes and, risk of developing breast cancer. Here a case-control study is reported, including 135 breat cancer patients and 112 healthy women, all representative of Northern Sardinian population.    Methods  Polymerase chain reaction/restriction fragment length polymorphism method was used to determine the genotypes of five polymorphisms:  MTHFR  C677T (rs1801133) and A1298C (rs1801131),  XRCC1  Arg194Trp (rs1799782) and Arg399Gln (rs25487) and  OGG1  Ser326Cys (rs1052133). Allelic, genotypic and haplotype association analyses with disease risk and clinicopathological parameters were performed.    Results  A nominally significant association with breast cancer risk was observed for  MTHFR  C677T polymorphism heterozygous genotype in the codominant model (OR: 0.57, 95% CI: 0.32–1.00,  p  = 0.049) and for Cys/Cys genotype of the  OGG1  Ser326Cys polymorphism in the recessive model (OR: 0.23, 95% CI: 0.05–1.11,  p  = 0.0465). No significant differences were found at genotype-level for A1298C polymorphism of the  MTHFR  gene and Arg194Trp and Arg399Gln of the  XRCC1  gene. Furthermore, the  OGG1  and  XRCC1  rs25487 polymorphisms were nominally associated with PgR, Her2 status and with sporadic breast cancer, respectively.    Conclusions  Based on genetic characteristics of individuals included in this study, results suggest that  MTHFR  CT and  OGG1  Cys / Cys genotypes have a protective effect that may have an influence on breast cancer risk in a representative Northern Sardinian population.

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia