title: Association of R156R single nucleotide polymorphism of the ERCC2 gene with the susceptibility to ovarian cancer.
abstract: OBJECTIVE
  The reported study was designed to explore associations between the ERCC2- R156R gene single nucleotide polymorphism (SNP) and the risk of ovarian cancer.
  
  
  METHODS
  The R156R (C to A, rs238406) polymorphism of ERCC2 gene was investigated by the PCR-RFLP technique in 400 patients with ovarian carcinoma and 400 age- and sex matched non-cancer controls. Blood samples were obtained from patients treated at the Department of Surgical Gynaecology and Gynaecologic Oncology, Institute of Polish Mothers Memorial Hospital between the years 2000 and 2015. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele.
  
  
  RESULTS
  Genotype distribution of R156R polymorphism of ERCC2 gene was compared between the patients and controls with significant differences (p<0.05) between the two investigated groups. A possible association was observed between ovarian cancer and the presence of A/A genotype (OR 3.30 95% CI 2.26-4.82, p<0.0001). The variant A allele of ERCC2 increased the risk of ovarian cancer (OR 2.08 95 % CI 1.70-2.54, p<0.0001). A relationship was confirmed between ERCC2 R156R polymorphism and ovarian cancer progression, assessed by the degree of histological grades and FIGO staging (p<0.05).
  
  
  CONCLUSIONS
  This is the first study, linking R156R polymorphism of ERCC2 gene with ovarian carcinoma incidence. In conclusion, ERCC2- R156R polymorphism may be connected with the susceptibility to ovarian cancer.
authors.affiliation: Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland.
authors.forename: Hanna
authors.initials: H
authors.lastname: Romanowicz
authors.affiliation: Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Poland.
authors.forename: Magdalena M
authors.initials: MM
authors.lastname: Michalska
authors.affiliation: Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Poland; Cathedral of Mother's and Child's Health, Poznań University of Medical Sciences, Poznań, Poland.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Samulak
authors.affiliation: Department of Operative Gynaecology, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland.
authors.forename: Jakub
authors.initials: J
authors.lastname: Malinowski
authors.affiliation: Department of Operative Gynaecology, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Szaflik
authors.affiliation: Department of Surgical, Endoscopic and Oncologic Gynaecology, Institute of Polish Mother's Memorial Hospital, Rzgowska 281/289, 93-338 Lodz, Poland.
authors.forename: Jan
authors.initials: J
authors.lastname: Bieńkiewicz
authors.affiliation: Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland. Electronic address: smolbea@wp.pl.
authors.forename: Beata
authors.initials: B
authors.lastname: Smolarz
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002277:Carcinoma / Q000097:blood / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006786:Hospitals, Urban; D006801:Humans; D008875:Middle Aged; D060787:Neoplasm Grading; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000097:blood / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010865:Pilot Projects; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D047368:Tumor Burden; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics* / Q000378:metabolism
chemical_list: D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human
keywords: ERCC2; Ovarian cancer; Polymorphism; R156R