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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article numbere97045
JournalPLoS One
Volume9
Issue number5
DOIs
StatePublished - May 8 2014
Externally publishedYes

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Exome
Endometrial Neoplasms
neoplasms
Population
Epidemiology
Genes
Genome-Wide Association Study
morbidity
epidemiology
risk factors
pathogenesis

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Chen, M. M., Crous-Bou, M., Setiawan, V. W., Prescott, J., Olson, S. H., Wentzensen, N., ... De Vivo, I. (2014). Exome-wide association study of endometrial cancer in a multiethnic population. PLoS One, 9(5), [e97045]. https://doi.org/10.1371/journal.pone.0097045

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

In: PLoS One, Vol. 9, No. 5, e97045, 08.05.2014.

Research output: Contribution to journalArticle

Chen, MM, Crous-Bou, M, Setiawan, VW, Prescott, J, Olson, SH, Wentzensen, N, Black, A, Brinton, L, Chen, C, Chen, C, Cook, LS, Doherty, J, Friedenreich, CM, Hankinson, SE, Hartge, P, Henderson, BE, Hunter, DJ, Le Marchand, L, Liang, X, Lissowska, J, Lu, L, Orlow, I, Petruzella, S, Polidoro, S, Pooler, L, Rebbeck, TR, Risch, H, Sacerdote, C, Schumacher, F, Sheng, X, Shu, XO, Weiss, NS, Xia, L, Van Den Berg, D, Yang, HP, Yu, H, Chanock, S, Haiman, C, Kraft, P & De Vivo, I 2014, 'Exome-wide association study of endometrial cancer in a multiethnic population', PLoS One, vol. 9, no. 5, e97045. https://doi.org/10.1371/journal.pone.0097045
Chen MM, Crous-Bou M, Setiawan VW, Prescott J, Olson SH, Wentzensen N et al. Exome-wide association study of endometrial cancer in a multiethnic population. PLoS One. 2014 May 8;9(5). e97045. https://doi.org/10.1371/journal.pone.0097045
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. / Exome-wide association study of endometrial cancer in a multiethnic population. In: PLoS One. 2014 ; Vol. 9, No. 5.
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