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Aim.  The aim of this study was to evaluate the role of the Lys751Gln (rs13181)  ERCC2  gene polymorphism in clinical parameters and the risk for development of ovarian cancer.  Material and Methods.  The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.  Results.  The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43;  p  < 0.0001). Association of Lys751Gln polymorphism with histological grading showed increased  ERCC2  Gln/Gln (OR = 6.96; 95% CI 3.41–14.21;  p  < 0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40;  p  < 0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in  ERCC2  Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed.  Conclusion.  On the basis of these results, we conclude that  ERCC2  gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women