Biomarker Potential of DNA Repair Genes XRCC1, XRCC3 and RAD51 Polymorphisms in Ovarian Cancer Patients.

Abstract

Ovarian cancer remains one of the most lethal gynecological malignancies, with a high mortality rate primarily due to late-stage diagnosis. Genetic predispositions play a significant role in its development, alongside environmental and lifestyle factors. The main objective of the study was to check the association of XRCC1, XRCC3, and RAD51 gene polymorphism with ovarian cancer. In the present 300 ovarian cancer patients and 300 healthy controls blood samples collected. The results showed that the heterozygous (GA) genotype of rs25487 SNP shows significant correlation with ovarian cancer with decreased risk of disease (OR = 0.39; 95% CI = 0.17-0.88; p < 0.02), whereas the homozygous variant (AA) genotype of the same SNP exhibits a non-significant relation with ovarian cancer. The combined genotype model of this SNP indicated a highly significant association with increased risk of ovarian cancer by twofold (OR = 2.10;95% CI = 1.22-3.64; p < 0.007). In case of rs861539 heterozygous (CT) showed significant association by increasing the risk of disease almost threefold (OR = 2.73; 95% CI 1.68-4.41; p < 0.0001). while the mutant (TT) of the same SNP showed again significant association but with decreased risk of ovarian cancer (OR = 0.27; 95% CI 0.16-0.47; p < 0.0001). The genotype distribution of the RAD51 gene's SNP (rs1801320) shows that heterozygous (GC) individuals exhibit a significant correlation and increased risk of ovarian cancer by twofold (OR = 2.81;95% CI = 1.72-4.60; p ≤ 0.0001). Conversely, the mutant (CC) of rs1801320 exhibits a significant correlation with a decrease in the risk of ovarian cancer (OR = 0.32; 95% CI = 0.19-0.55; p < 0.0001). In conclusion, the study's findings suggest that a higher chance of ovarian cancer is related to the gene XRCC1, XRCC3, and RAD51 polymorphisms. In this study, SNPs were analyzed for their potential role as biomarkers for the diagnosis of ovarian cancer.