The role of polymorphic variants of the ERCC2 excision repair gene in the pathogenesis of ovarian cancer in women of different ethnic origins

Abstract

Malignant neoplasms of the ovaries are one of the most frequently diagnosed tumors of the female reproductive system and one of the leading causes of cancer death in women worldwide. Despite significant advances in the field of early diagnosis and treatment of the disease, the survival rate of patients with this form of oncopathology is still low, which dictates the need for further study of this problem. The aim of the work was to evaluate the role of polymorphic variants rs13181 and rs238406 of the ERCC2 gene in the development of hereditary and sporadic forms of ovarian cancer in women of different ethnicity from the Republic of Bashkortostan. The material for the study was DNA samples of women with sporadic forms of ovarian cancer (n=182), hereditary forms of ovarian cancer (n=65) and women without cancer at the time of blood sampling (n=292) of various ethnic origins. Genotyping was performed by polymerase chain reaction (PCR) followed by analysis of restriction fragment length polymorphism. As a result of the study, an association of the rs13181*C allele of the ERCC2 gene with the risk of developing hereditary and sporadic forms of ovarian cancer in women of Russian ethnicity was established. An association of the rs238406*GT genotype of the ERCC2 gene with the risk of developing sporadic forms of ovarian cancer was revealed. The data obtained indicate the involvement of the studied polymorphic variants in the pathogenesis of ovarian cancer in our region.