Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
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Author
Crous-Bou, Marta
Setiawan, Veronica W.
Olson, Sara H.
Wentzensen, Nicolas
Black, Amanda
Brinton, Louise
Chen, Chu
Chen, Constance
Cook, Linda S.
Doherty, Jennifer
Friedenreich, Christine M.
Hartge, Patricia
Henderson, Brian E.
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
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1371/journal.pone.0097045Metadata
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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. http://dx.doi.org/10.1371/journal.pone.0097045.Abstract
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.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014590/pdf/Terms of Use
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