Single nucleotide polymorphism (SNP) Thr241Met in the XRCC3 gene and breast cancer risk in Polish women

Background: Single nucleotide polymorphisms (SNPs) in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual’s risk of cancer. The XRCC3 protein plays a critical role in Homologous Recombination Repair (HRR) accounting for repair of DNA double-strand breaks (DSB).

Aim: The aim of the present study was to evaluate associations between the risk of breast cancer and Thr241Met polymorphism in the XRCC3 gene.

Material and methods: Single nucleotide polymorphism was genotyped by the PCR-RFLP (restriction fragment-length polymorphism) method in 760 women with sporadic breast cancer and in 760 control samples. The present study confirmed a relationship between XRCC3 Thr241Met polymorphism and breast cancer progression, assessed by the degree of lymph node metastases and histological stages.

Conclusion: Our findings suggest that the analysis of XRCC3 polymorphism, may contribute to better understanding of the mechanisms of breast cancer by evaluating possible interactions between these genotypes and well-established risk factors for breast cancer.