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Title: Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
Authors: Chen, Maxine M.;Crous-Bou, Marta;Setiawan, Veronica W.;Prescott, Jennifer;Olson, Sara H.;Wentzensen, Nicolas;Black, Amanda;Brinton, Louise;Chen, Chu;Chen, Constance;Cook, Linda S.;Doherty, Jennifer;Friedenreich, Christine M.;Hankinson, Susan E.;Hartge, Patricia;Henderson, Brian E.;Hunter, David J.;Le Marchand, Loic;Liang, Xiaolin;Lissowska, Jolanta;Lu, Lingeng;Orlow, Irene;Petruzella, Stacey;Polidoro, Silvia;Pooler, Loreall;Rebbeck, Timothy R.;Risch, Harvey;Sacerdote, Carlotta;Schumacher, Frederick;Sheng, Xin;Shu, Xiao-ou;Weiss, Noel S.;Xia, Lucy;Van Den Berg, David;Yang, Hannah P.;Yu, Herbert;Chanock, Stephen;Haiman, Christopher;Kraft, Peter;De Vivo, Immaculata
subject: Biology and Life Sciences;Genetics;Cancer Genetics;Human Genetics;Medicine and Health Sciences;Epidemiology;Cancer Epidemiology;Oncology;Cancer Risk Factors;Genetic Causes of Cancer;Cancers and Neoplasms;Gynecological Tumors;Women's Health;Obstetrics and Gynecology;Gynecologic Cancers
Year: 2014
Publisher: Public Library of Science
Description: Endometrial cancer (EC) contributes substantially to total burden of cancer morbidity and mortality in the United States. Family history is a known risk factor for EC, thus genetic factors may play a role in EC pathogenesis. Three previous genome-wide association studies (GWAS) have found only one locus associated with EC, suggesting that common variants with large effects may not contribute greatly to EC risk. Alternatively, we hypothesize that rare variants may contribute to EC risk. We conducted an exome-wide association study (EXWAS) of EC using the Infinium HumanExome BeadChip in order to identify rare variants associated with EC risk. We successfully genotyped 177,139 variants in a multiethnic population of 1,055 cases and 1,778 controls from four studies that were part of the Epidemiology of Endometrial Cancer Consortium (E2C2). No variants reached global significance in the study, suggesting that more power is needed to detect modest associations between rare genetic variants and risk of EC.
Standard no: Chen, M. M., M. Crous-Bou, V. W. Setiawan, J. Prescott, S. H. Olson, N. Wentzensen, A. Black, et al. 2014. “Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population.” PLoS ONE 9 (5): e97045. doi:10.1371/journal.pone.0097045.
Appears in Collections:HMS Scholarly Articles

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