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Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population
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 l...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014590/ https://www.ncbi.nlm.nih.gov/pubmed/24810602 http://dx.doi.org/10.1371/journal.pone.0097045 |
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author | 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 |
author_facet | 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 |
author_sort | Chen, Maxine M. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4014590 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-40145902014-05-14 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 PLoS One Research Article 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. Public Library of Science 2014-05-08 /pmc/articles/PMC4014590/ /pubmed/24810602 http://dx.doi.org/10.1371/journal.pone.0097045 Text en © 2014 Chen et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article 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 |
title | Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population |
title_full | Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population |
title_fullStr | Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population |
title_full_unstemmed | Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population |
title_short | Exome-Wide Association Study of Endometrial Cancer in a Multiethnic Population |
title_sort | exome-wide association study of endometrial cancer in a multiethnic population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014590/ https://www.ncbi.nlm.nih.gov/pubmed/24810602 http://dx.doi.org/10.1371/journal.pone.0097045 |
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