Endometrial cancer (EC) is one of the most common female malignancies in developed countries [1,2]. Age, hormonal status, diabetes, hypertension, obesity, sterility, low parity, late menopause and genetic factors (including mutations in TP53 and P16 and single nucleotide polymorphisms) [3,4] are the classical risk factors of this disease. Despite advanced diagnostic and therapeutic protocols, EC still carries high morbidity and mortality. As effective clinical screening has not been found yet, the genetic approach seems to be appropriate to identify high-risk subjects. Therefore, there is a clear need to identify new tools that could provide risk and predictive factors of EC.XRCC2 (X-ray repair cross-complementing group 2) with RAD51 (RecA homolog, E. coli) (S. cerevisiae), XRCC3 (X-ray repair cross-complementing group 3), Aim of the study: The XRCC2 gene plays a crucial role in double-strand DNA break repair by homologous recombination. Current literature provides clear evidence that XRCC2 polymorphisms may be associated with the development of certain types of cancer; however, still little is known about their association with endometrial cancer (EC).
Material and methods:The single nucleotide polymorphism (SNP) -41657C/T (rs718282) of the XRCC2 gene was investigated by PCR-RFLP in 304 patients with EC and in 200 age-and sex-matched non-cancer controls. Results: The analysis revealed a relationship between XRCC2 -41657C/T polymorphism and the incidence of EC. Endometrial cancer patients showed overrepresentation of the T allele of the SNP. The T/T homozygous variant increased the cancer risk. There were no significant differences between the distribution of XRCC2 -41657C/T genotypes in the subgroups according to histological grade. Conclusions: This is the first study that links the SNP -41657C/T (rs718282) of the XRCC2 gene with EC in Polish women. The results support the hypothesis that this polymorphism may be positively correlated with the incidence of EC.