Association of genetic variations in estrogen synthesis and DNA repair pathways with ovarian cancer A case control and an insilico study

Abstract

Ovarian cancer is the most lethal form of gynecological cancer among women due to its diagnosis at advanced stage which leads to poor survival Assessment of genetic risk for OCa is an important trait to increase survival of the patient by diagnosing at an early stage In the present study polymorphisms from genes involved in estrogen synthesis base excision repair and homologous recombination were genotyped by allelic discrimination assay using RT PCR in 200 OCa cases and 200 healthy individuals All statistical calculations were performed using SPSS and EpiInfo software The present study revealed a significant association between CYP17A1 CYP19A1 XRCC1 RAD51 XRCC2 gene polymorphisms and ovarian cancer risk The CYP17A1 CYP19A1 XRCC1 RAD51 and XRCC3 gene polymorphisms were found to be associated with clinical characteristics of the OCa patients The haplotypes GT of RAD51 and TAG of XRCC1 were found to have a significant association with OCa risk High synergistic interaction was observed between rs1799794 and rs25487 The in silico tools predicted SNPs are having its effect on protein function disease association and stability Moreover the polymorphisms of the genes HSD17B1 XRCC1 and XRCC3 did not show any significant association with ovarian cancer risk The present study revealed that CYP17A1 CYP19A1 XRCC1 RAD51 and XRCC2 gene polymorphisms might have an impact on the OCa risk in the south Indian population The results from the present study may aid in early diagnosis by using these SNPs as a biomarker as well as in treatments which benefit the patients by increasing survival and treatment outcome newline