Objective: The polymorphic variations of DNA repair genes may contribute to functional deficiencies in DNA repair processes increasing susceptibility to cancer. We aimed to investigate the impact of 135G>C RAD51 and XRCC1 Arg399Gln polymorphisms on ovarian carcinoma risk in Serbian women.
Methods: The study included 50 ovarian carcinoma samples and 78 cervical swabs of gynecologically healthy age-matched controls. RAD51 G135C and XRCC1 Arg399Gln polymorphisms were determined by PCR-RFLP. Deviations of the genotype frequencies from Hardy-Weinberg equilibrium were assessed using the χ2 test. The allele- and genotype-specific risks were estimated as odds ratios with 95% confidence intervals.
Results: RAD51 135C and XRCC1 Arg allele are associated with ovarian carcinoma [OR (95% CI): 2.54 (1.22-5.29) for C vs. G; 2.64 (1.53-4.55) for Arg vs. Gln]. RAD51 C exerts its effect in dominant (CC plus GC vs. GG) [OR (95% CI): 2.83 (1.21-6.62], while XRCC1Arg in dominant (ArgArg plus ArgGln vs. GlnGln) [OR (95% CI): 4.76 (1.69-13.42)] and recessive model (ArgArg vs. ArgGln plus GlnGln) [OR (95% CI): 2.21 (1.07-4.56)].
Conclusion: The results suggest that the RAD51 G135C and XRCC1 Arg399Gln polymorphisms could be biomarkers of susceptibility for ovarian carcinoma development. Further larger case-control study is needed to confirm our findings.
Keywords: DNA repair; RAD51 G135C polymorphism; XRCC1 Arg399Gln polymorphism; ovarian carcinoma.