Document Type
Article
Publication Date
5-8-2014
Publication Title
PloS One
Department
Geisel School of Medicine
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.
DOI
10.1371/journal.pone.0097045
Dartmouth Digital Commons Citation
Chen, Maxine M.; Crous-Bou, Marta; Setiawan, Veronica W.; Prescott, Jennifer; Olson, Sarah H.; Wentzensen, Nicolas; Black, Amanda; Brinton, Louise; Chen, Chu; Chen, Constance; Cook, Linda S.; and Doherty, Jennifer, "Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population" (2014). Dartmouth Scholarship. 2718.
https://digitalcommons.dartmouth.edu/facoa/2718