Evidence of a genetic link between endometriosis and ovarian cancer

Capsule:
There is a clear genetic link between endometriosis and risk of ovarian cancer, especially for the highgrade serous and clear cell histotypes.

Authors:
Alice W. Lee, M.P.H., Claire Templeman, M.D., Douglas A. Stram, B.S., Jonathan Beesley, Ph.D., Jonathan Tyrer, Ph.D., Andrew Berchuck, M.D., Paul P. Pharoah, Ph.D., Georgia Chenevix-Trench, Ph.D., Celeste Leigh Pearce, Ph.D. on behalf of the Ovarian Cancer Association Consortium

Volume 105, Issue 1, Pages 35-43

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.

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