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National Institute of Environmental Health Sciences

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Your Environment. Your Health.

Publication Detail

Title: Evidence of a genetic link between endometriosis and ovarian cancer.

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

Published In Fertil Steril, (2016 Jan)

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.

PubMed ID: 26477498 Exiting the NIEHS site

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

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