Exome-wide association study of endometrial cancer in a multiethnic population

Maxine M. Chen, Marta Crous-Bou, Veronica W. Setiawan, Jennifer Prescott, Sara H. Olson, Nicolas Wentzensen, Amanda Black, Louise Brinton, Chu Chen, Constance Chen, Linda S. Cook, Jennifer Doherty, Christine M. Friedenreich, Susan E. Hankinson, Patricia Hartge, Brian E. Henderson, David J. Hunter, Loic Le Marchand, Xiaolin Liang, Jolanta LissowskaLingeng Lu, Irene Orlow, Stacey Petruzella, Silvia Polidoro, Loreall Pooler, Timothy R. Rebbeck, Harvey Risch, Carlotta Sacerdote, Frederick Schumacher, Xin Sheng, Xiao Ou Shu, Noel S. Weiss, Lucy Xia, David Van Den Berg, Hannah P. Yang, Herbert Yu, Stephen Chanock, Christopher Haiman, Peter Kraft, Immaculata De Vivo

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8 Scopus citations


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.

Original languageEnglish (US)
Article numbere97045
JournalPloS one
Issue number5
StatePublished - May 8 2014
Externally publishedYes

ASJC Scopus subject areas

  • General


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