Evidence of a genetic link between endometriosis and ovarian cancer

Alice W Lee, Claire Templeman, Douglas A. Stram, Jonathan Beesley, Jonathan Tyrer, Andrew Berchuck, Paul D P Pharoah, Georgia Chenevix-Trench, Celeste Leigh Pearce, Ovarian Cancer Association Consortium

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36 Citations (Scopus)


Objective To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer. Design Pooled genetic analysis. Setting University hospital. Patient(s) Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,815 controls) from 41 ovarian cancer studies. Intervention(s) None. Main Outcome Measure(s) Endometriosis-associated genetic variation and ovarian cancer. Result(s) 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. Conclusion(s) 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.

Original languageEnglish
Pages (from-to)35-43e10
JournalFertility and Sterility
Issue number1
Publication statusPublished - 2016


  • Endometriosis
  • genetic variation
  • ovarian cancer
  • SNPs

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