Polymorphism of DNA repair genes in breast cancer.

AIM

The aim of the study was to determine the relationship between single nucleotide polymorphisms (SNPs) of DNA repair genes and modulation of the risk of breast cancer. The following SNPs were analysed: XRCC1-Arg399Gln (rs25487), hMSH2-Gly322Asp (rs4987188), -Arg188His (rs3218536), - Lys751Gln (rs13181), --4719A/T (rs2619679) and --4601A/G (rs5030789).

MATERIAL AND METHODS

The study included = 600 patients: 300 with breast cancer and 300 healthy controls. The HRM (High-Resolution Melter) technique was applied for polymorphism analysis. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele.

RESULTS

Statistically significant correlations were identified between four single nucleotide polymorphisms and the breast cancer risk: -Arg399Gln, -Gly322Asp, - Lys751Gln and --4719A/T. Allele XRCC1-Gln (OR 6.37; 95% CI 4.86-8.35, < .0001), -Asp (OR 4.41; 95% CI 3.43-5.67, < .0001), XPD -Gln (OR 2.56; 95% CI 2.02-3.25, < .0001) and -T genes (OR 1.44; 95% CI 1.15-1.80, = 0.002) strongly correlated with breast carcinoma. No relationship was observed between the studied polymorphisms and the cancer progression grade according to Scarf-Bloom-Richardson classification.

CONCLUSIONS

The results implies that polymorphisms of DNA repair genes may be associated with breast cancer occurrence.