title: Genetic risk factors for ovarian cancer and their role for endometriosis risk.
abstract: Several genetic variants have been validated as risk factors for ovarian cancer. Endometriosis has also been described as a risk factor for ovarian cancer. Identifying genetic risk factors that are common to the two diseases might help improve our understanding of the molecular pathogenesis potentially linking the two conditions.
  
  
  
  In a hospital-based case-control analysis, 12 single nucleotide polymorphisms (SNPs), validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project, were genotyped using TaqMan® OpenArray™ analysis. The cases consisted of patients with endometriosis, and the controls were healthy individuals without endometriosis. A total of 385 cases and 484 controls were analyzed. Odds ratios and P values were obtained using simple logistic regression models, as well as from multiple logistic regression models with adjustment for clinical predictors.
  
  
  
  rs11651755 in HNF1B was found to be associated with endometriosis in this case-control study. The OR was 0.66 (95% CI, 0.51 to 0.84) and the P value after correction for multiple testing was 0.01. None of the other genotypes was associated with a risk for endometriosis.
  
  
  
  As rs11651755 in HNF1B modified both the ovarian cancer risk and also the risk for endometriosis, HNF1B may be causally involved in the pathogenetic pathway leading from endometriosis to ovarian cancer.
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Burghaus
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Division of Hematology and Oncology, Department of Medicine, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, USA. Electronic address: peter.fasching@uk-erlangen.de.
authors.forename: Peter A
authors.initials: PA
authors.lastname: Fasching
authors.affiliation: Biostatistics Unit, Department of Gynecology and Obstetrics, Erlangen University Hospital, Erlangen, Germany.
authors.forename: Lothar
authors.initials: L
authors.lastname: Häberle
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Rübner
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Büchner
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
authors.forename: Simon
authors.initials: S
authors.lastname: Blum
authors.affiliation: Biostatistics Unit, Department of Gynecology and Obstetrics, Erlangen University Hospital, Erlangen, Germany.
authors.forename: Anne
authors.initials: A
authors.lastname: Engel
authors.affiliation: Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen, Germany.
authors.forename: Arif B
authors.initials: AB
authors.lastname: Ekici
authors.affiliation: Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen, Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Hartmann
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Hein
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
authors.forename: Matthias W
authors.initials: MW
authors.lastname: Beckmann
authors.affiliation: Department of Gynecology and Obstetrics, University Endometriosis Center for Franconia, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
authors.forename: Stefan P
authors.initials: SP
authors.lastname: Renner
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000235:genetics; D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008875:Middle Aged; D016017:Odds Ratio; D010051:Ovarian Neoplasms / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta
keywords: Case–control study; Endometriosis; Ovarian cancer; Single-nucleotide polymorphism