Evidence of a genetic link between endometriosis and ovarian cancer.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Lee, AW; Templeman, C; Stram, DA; Beesley, J; Tyrer, J; Berchuck, A; Pharoah, PP; Chenevix-Trench, G; Pearce, CL; Ovarian Cancer Association Consortium,

Published Date

  • January 2016

Published In

Volume / Issue

  • 105 / 1

Start / End Page

  • 35-43.e1-10 -

PubMed ID

  • 26477498

Pubmed Central ID

  • PMC5068352

Electronic International Standard Serial Number (EISSN)

  • 1556-5653

Digital Object Identifier (DOI)

  • 10.1016/j.fertnstert.2015.09.023


  • eng

Conference Location

  • United States