Taken together, our findings suggest that the hOGG1 c.269C > A and c.828A > G genetic variants are significantly associated with EC susceptibility in Chinese Han populations and might be used as molecular markers for assessing the risk of EC.
Given the crucial role of the APEX and OGG1 proteins in BER of oxidative DNA damage, the identified polymorphisms are good candidates for genetic epidemiologic studies of cancer susceptibility, while the finding that three of 20 (15%) endometrial tumors have somatic mutations in APEX suggests that inactivation of the BER pathway is important for the development of endometrial cancer in at least a subset of cases.