The role of single nucleotide polymorphism Arg399Gln XRCC1 gene in endometrial cancer in Polish postmenopausal women

Background: Endometrial cancer is one of the most common malignant neoplasms which appear in the uterine body. X-ray repair cross-complementing 1 (XRCC1) protein can be involved in the repair of DNA lesions, which are known to contribute to endometrial cancer.

Material and methods : The genotype analysis of XRCC1 Arg399Gln gene polymorphisms for 456 endometrial cancer patients and 300 controls of cancer-free subjects in the Polish population was performed using PCR-based restriction fragment length polymorphism (PCR-RFLP).

Results : An association was found between endometrial cancer occurrence and the Gln/Gln genotype of the Arg399Gln polymorphism (odds ratio 2.22; 95% confidence interval 1.51-3.27, p < 0.0001). The Gln/Gln genotype of XRCC1 increased the risk of type I endometrial cancer occurrence (OR = 2.13, 95% CI = 2.02-2.75, p < 0.012).

No statistically significant association was found between gene polymorphisms and endometrial cancer risk factors such as BMI, HRT, uterine bleeding, diabetes and hypertension.

Conclusion : The results support the hypothesis that the Arg399Gln polymorphism of the XRCC1 gene may be associated with the development of sporadic endometrial cancer in Polish women.