Evidence of a genetic link between endometriosis and ovarian cancer
Lee AW, Templeman C, Stram DA, Beesley J, Tyrer J, Berchuck A, Pharoah PP, Chenevix-Trench G, Pearce CL, Hein A, Shvetsov YB (2016)
Publication Type: Journal article
Publication year: 2016
Journal
Book Volume: 105
Pages Range: 35-43.e10
Journal Issue: 1
DOI: 10.1016/j.fertnstert.2015.09.023
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.
Authors with CRIS profile
Involved external institutions
University of Cambridge
United Kingdom (GB)
University of Southern California (USC)
United States (USA) (US)
Duke University
United States (USA) (US)
QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research)
Australia (AU)
University of Hawaiʻi at Mānoa
United States (USA) (US)
United Kingdom (GB)
University of Southern California (USC)
United States (USA) (US)
Duke University
United States (USA) (US)
QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research)
Australia (AU)
University of Hawaiʻi at Mānoa
United States (USA) (US)
How to cite
APA:
Lee, A.W., Templeman, C., Stram, D.A., Beesley, J., Tyrer, J., Berchuck, A.,... Shvetsov, Y.B. (2016). Evidence of a genetic link between endometriosis and ovarian cancer. Fertility and Sterility, 105(1), 35-43.e10. https://doi.org/10.1016/j.fertnstert.2015.09.023
MLA:
Lee, Alice W., et al. "Evidence of a genetic link between endometriosis and ovarian cancer." Fertility and Sterility 105.1 (2016): 35-43.e10.
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