Association between single nucleotide polymorphism of DNA repair genes and endometrial cancer: a case-control study

Aim: The aim of this study was to analyse the frequencies of genotypes and alleles of Single Nucleotide Polymorphisms (SNPs) of six DNA repair genes (XRCC1-rs25487, XPD-rs13181, hMSH2-rs4987188, XRCC2-rs3218536, BRCA1-rs799917 and BRCA2-rs144848 SNPs) and attempt to evaluate the effect this DNA marker on endometrial cancer (EC). Material and methods: The patients were recruited to the study at the Department of Operative Gynaecology of the Institute of the Polish Mother's Memorial Hospital in Lodz. The study comprised 510 patients treated for EC. 510 disease-free individuals were used as controls. SNPs were analysed by the high resolution-melting technique (HRM). Results: Statistically significant correlations were identified between four SNPs and endometrial cancer risk: rs25487, rs4987188, rs13181 and rs799917. The alleles XRCC1-Gln (OR 2.89; 95% CI 2.39-3.49, P<0.0001), hMSH2-Asp (OR 1.65; 95% CI 1.38-1.96, P<0.0001), XPD-Gln (OR 3.24; 95% CI 2.69-3.91, P<0.0001) and BRCA1-L (OR 1.56; 95% CI 1.31-1.85, P<0.0001) genes were strongly correlated with this malignancy. No relationship was found between the studied polymorphisms of XRCC2 and BRCA2 and the incidence of endometrial cancer. There was also not any association between polymorphisms of XRCC1, hMSH2, XPD, XRCC2, BRCA1, BRCA2, i.e., the polymorphisms of the analysed repair genes, and the cancer stage progression acc. to FIGO, the body mass index, the number of pregnancies in history, replacement therapy, diabetes mellitus and hypertension. Conclusions: The results indicate that rs25487, rs4987188, rs13181, and rs799917 SNPs may be associated with the incidence of endometrial cancer.