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 Lissowska; Lingeng 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

doi:10.1371/journal.pone.0097045

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

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

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.

Lingua originale	Inglese
Numero di articolo	e97045
Rivista	PLoS ONE
Volume	9
Numero di pubblicazione	5
DOI	https://doi.org/10.1371/journal.pone.0097045
Stato di pubblicazione	Pubblicato - 8 mag 2014
Pubblicato esternamente	Sì

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Chen, M. M., Crous-Bou, M., Setiawan, V. W., Prescott, J., Olson, S. H., Wentzensen, N., Black, A., Brinton, L., Chen, C., Chen, C., Cook, L. S., Doherty, J., Friedenreich, C. M., Hankinson, S. E., Hartge, P., Henderson, B. E., Hunter, D. J., Le Marchand, L., Liang, X., ... De Vivo, I. (2014). Exome-wide association study of endometrial cancer in a multiethnic population. PLoS ONE, 9(5), Articolo e97045. https://doi.org/10.1371/journal.pone.0097045

@article{0cf7232f3b4b412d9de12c4ca87d5d3b,

title = "Exome-wide association study of endometrial cancer in a multiethnic population",

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.",

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

year = "2014",

month = may,

day = "8",

doi = "10.1371/journal.pone.0097045",

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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, n. 5, e97045. https://doi.org/10.1371/journal.pone.0097045

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AU - Chen, Maxine M.

AU - Crous-Bou, Marta

AU - Setiawan, Veronica W.

AU - Prescott, Jennifer

AU - Olson, Sara H.

AU - Wentzensen, Nicolas

AU - Black, Amanda

AU - Brinton, Louise

AU - Chen, Chu

AU - Chen, Constance

AU - Cook, Linda S.

AU - Doherty, Jennifer

AU - Friedenreich, Christine M.

AU - Hankinson, Susan E.

AU - Hartge, Patricia

AU - Henderson, Brian E.

AU - Hunter, David J.

AU - Le Marchand, Loic

AU - Liang, Xiaolin

AU - Lissowska, Jolanta

AU - Lu, Lingeng

AU - Orlow, Irene

AU - Petruzella, Stacey

AU - Polidoro, Silvia

AU - Pooler, Loreall

AU - Rebbeck, Timothy R.

AU - Risch, Harvey

AU - Sacerdote, Carlotta

AU - Schumacher, Frederick

AU - Sheng, Xin

AU - Shu, Xiao Ou

AU - Weiss, Noel S.

AU - Xia, Lucy

AU - Van Den Berg, David

AU - Yang, Hannah P.

AU - Yu, Herbert

AU - Chanock, Stephen

AU - Haiman, Christopher

AU - Kraft, Peter

AU - De Vivo, Immaculata

PY - 2014/5/8

Y1 - 2014/5/8

N2 - 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.

AB - 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.

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DO - 10.1371/journal.pone.0097045

M3 - Article

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IS - 5

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ER -

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

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