Evidence of a genetic link between endometriosis and ovarian cancer

Fertil Steril. 2016 Jan;105(1):35-43.e1-10. doi: 10.1016/j.fertnstert.2015.09.023. Epub 2015 Oct 23.

Abstract

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.

Keywords: Endometriosis; SNPs; genetic variation; ovarian cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Case-Control Studies
  • Computational Biology
  • Databases, Genetic
  • Endometriosis / diagnosis
  • Endometriosis / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Neoplasm Grading
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Risk Assessment
  • Risk Factors

Grants and funding