Evidence of a genetic link between endometriosis and ovarian cancer

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

doi:10.1016/j.fertnstert.2015.09.023

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Evidence of a genetic link between endometriosis and ovarian cancer

Journal article

Open access

Peer reviewed

Evidence of a genetic link between endometriosis and ovarian cancer

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

Fertility and sterility, Vol.105(1), pp.35-43.e10

01/2016

DOI: https://doi.org/10.1016/j.fertnstert.2015.09.023

PMCID: PMC5068352

PMID: 26477498

Abstract

Case-Control Studies

Databases, Genetic

Endometriosis - diagnosis

Endometriosis - genetics

Female

Genetic Predisposition to Disease

Genome-Wide Association Study

Humans

Neoplasm Grading

Ovarian Neoplasms - diagnosis

Ovarian Neoplasms - genetics

Polymorphism, Single Nucleotide

Risk Assessment

Risk Factors

Computational Biology

Phenotype

To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer. Pooled genetic analysis. University hospital. Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,815 controls) from 41 ovarian cancer studies. None. Endometriosis-associated genetic variation and ovarian cancer. 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. 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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Title: Evidence of a genetic link between endometriosis and ovarian cancer
Creators: Alice W Lee - Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California
Claire Templeman - Department of Obstetrics and Gynecology, Keck School of Medicine, University of Southern California, Los Angeles, California
Douglas A Stram - Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California
Jonathan Beesley - Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Jonathan Tyrer - Department of Oncology and Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom
Andrew Berchuck - Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina
Paul P Pharoah - Department of Oncology and Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom; Department of Public Health and Primary Care and Strangeways Research Laboratory, University of Cambridge, Cambridge, United Kingdom
Georgia Chenevix-Trench - Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Celeste Leigh Pearce - Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan. Electronic address: lpearce@umich.edu
Ovarian Cancer Association Consortium
Elisa Bandera - Rutgers University, Cancer Epidemiology and Health Outcomes
Publication Details: Fertility and sterility, Vol.105(1), pp.35-43.e10
Date published: 01/2016
Grant note: R03 CA113148 / NCI NIH HHS R01-CA017054 / NCI NIH HHS N01 CN025403 / NCI NIH HHS K22-CA138563 / NCI NIH HHS R01-CA122443 / NCI NIH HHS K22 CA138563 / NCI NIH HHS P30 CA071789 / NCI NIH HHS R01-CA067262 / NCI NIH HHS R01-CA050385 / NCI NIH HHS M01 RR000056 / NCRR NIH HHS C490/A10124 / Cancer Research UK R01-CA074850 / NCI NIH HHS R01 CA067262 / NCI NIH HHS P50 CA105009 / NCI NIH HHS R01-CA092044 / NCI NIH HHS R01 CA074850 / NCI NIH HHS R01 CA054419 / NCI NIH HHS R01 CA095023 / NCI NIH HHS R01-CA080978 / NCI NIH HHS R01-CA054419 / NCI NIH HHS R01 CA136924 / NCI NIH HHS R01 CA076016 / NCI NIH HHS P50-CA105009 / NCI NIH HHS K07 CA143047 / NCI NIH HHS P01-CA087696 / NCI NIH HHS R01 CA122443 / NCI NIH HHS R01-CA061132 / NCI NIH HHS K07-CA095666 / NCI NIH HHS R01-CA014089 / NCI NIH HHS R01-CA058860 / NCI NIH HHS R01 CA058860 / NCI NIH HHS R01 CA063678 / NCI NIH HHS R01-CA126841 / NCI NIH HHS P30 CA015083 / NCI NIH HHS R01 CA149429 / NCI NIH HHS R01 CA114343 / NCI NIH HHS P30-CA072720 / NCI NIH HHS R01 CA087696 / NCI NIH HHS R01-CA114343 / NCI NIH HHS C490/A6187 / Cancer Research UK R01-CA087538 / NCI NIH HHS R01-CA076016 / NCI NIH HHS R01-CA136924 / NCI NIH HHS K07-CA143047 / NCI NIH HHS UL1TR000124 / NCATS NIH HHS P30 CA046592 / NCI NIH HHS R01-CA016056 / NCI NIH HHS R01 CA126841 / NCI NIH HHS R01 CA141154 / NCI NIH HHS P30 CA014089 / NCI NIH HHS N01-PC67001 / NCI NIH HHS P30 CA072720 / NCI NIH HHS P01-CA017054 / NCI NIH HHS T32ES013678 / NIEHS NIH HHS R03 CA115195 / NCI NIH HHS R01-CA083918 / NCI NIH HHS U01 CA069417 / NCI NIH HHS R01 CA063682 / NCI NIH HHS R01 CA058598 / NCI NIH HHS P01 CA017054 / NCI NIH HHS K07-CA80668 / NCI NIH HHS R01 CA083918 / NCI NIH HHS R03-CA115195 / NCI NIH HHS K07 CA080668 / NCI NIH HHS R01-CA058598 / NCI NIH HHS MO1-RR000056 / NCRR NIH HHS K07 CA092044 / NCI NIH HHS R01-CA149429 / NCI NIH HHS N01-PC035137 / NCI NIH HHS P30 CA016056 / NCI NIH HHS U01-CA069417 / NCI NIH HHS R01 CA087538 / NCI NIH HHS R01 CA136891 / NCI NIH HHS R01-CA071766 / NCI NIH HHS N01 PC035137 / NCI NIH HHS T32 ES013678 / NIEHS NIH HHS R01-CA049449 / NCI NIH HHS C490/A10119 / Cancer Research UK MOP-86727 / Canadian Institutes of Health Research P50-CA136393 / NCI NIH HHS K07 CA095666 / NCI NIH HHS N01PC35137 / NCI NIH HHS R01 CA112523 / NCI NIH HHS 10124 / Cancer Research UK P50 CA159981 / NCI NIH HHS U19 CA148112 / NCI NIH HHS UL1 TR000124 / NCATS NIH HHS P30-CA008748 / NCI NIH HHS N01 PC067010 / NCI NIH HHS R01-CA095023 / NCI NIH HHS N01-CN55424 / NCI NIH HHS R01-CA061107 / NCI NIH HHS R01 CA050385 / NCI NIH HHS P30 CA008748 / NCI NIH HHS U01-CA071966 / NCI NIH HHS P50-CA159981 / NCI NIH HHS P50 CA136393 / NCI NIH HHS P30-CA15083 / NCI NIH HHS PSA-042205 / PHS HHS R01 CA049449 / NCI NIH HHS R03-CA113148 / NCI NIH HHS N01-PC067010 / NCI NIH HHS R01-CA112523 / NCI NIH HHS
Academic Unit: Cancer Epidemiology and Health Outcomes
Language: English
Resource Type: Journal article
Identifiers: 991031665784104646