title: Evidence of a genetic link between endometriosis and ovarian cancer.
abstract: OBJECTIVE
  To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer.
  
  
  METHODS
  Pooled genetic analysis.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,815 controls) from 41 ovarian cancer studies.
  
  
  METHODS
  None.
  
  
  METHODS
  Endometriosis-associated genetic variation and ovarian cancer.
  
  
  RESULTS
  There was significant evidence of an association between endometriosis-related genetic variation and ovarian cancer risk, especially for the high-grade serous and clear cell histotypes. Overall we observed 15 significant burden statistics, which was three times more than expected.
  
  
  CONCLUSIONS
  By focusing on candidate regions from a phenotype associated with ovarian cancer, we have shown a clear genetic link between endometriosis and ovarian cancer that warrants further follow-up. The functional significance of the identified regions and SNPs is presently uncertain, though future fine mapping and histotype-specific functional analyses may shed light on the etiologies of both gynecologic conditions.
authors.affiliation: Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
authors.forename: Alice W
authors.initials: AW
authors.lastname: Lee
authors.affiliation: Department of Obstetrics and Gynecology, Keck School of Medicine, University of Southern California, Los Angeles, California.
authors.forename: Claire
authors.initials: C
authors.lastname: Templeman
authors.affiliation: Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
authors.forename: Douglas A
authors.initials: DA
authors.lastname: Stram
authors.affiliation: Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Beesley
authors.affiliation: Department of Oncology and Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Tyrer
authors.affiliation: Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina.
authors.forename: Andrew
authors.initials: A
authors.lastname: Berchuck
authors.affiliation: Department of Oncology and Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom; Department of Public Health and Primary Care and Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom.
authors.forename: Paul P
authors.initials: PP
authors.lastname: Pharoah
authors.affiliation: Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
authors.forename: Georgia
authors.initials: G
authors.lastname: Chenevix-Trench
authors.affiliation: Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan. Electronic address: lpearce@umich.edu.
authors.forename: Celeste Leigh
authors.initials: CL
authors.lastname: Pearce
mesh_terms: D016022:Case-Control Studies; D019295:Computational Biology; D030541:Databases, Genetic; D004715:Endometriosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D060787:Neoplasm Grading; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors
keywords: Endometriosis; SNPs; genetic variation; ovarian cancer