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

   


Authors: Chen, M. M.; Crous-Bou, M.; Setiawan, V. W.; Prescott, J.; Olson, S. H.; Wentzensen, N.; Black, A.; Brinton, L.; 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.; Lissowska, J.; Lu, L.; Orlow, I.; Petruzella, S.; Polidoro, S.; Pooler, L.; Rebbeck, T. R.; Risch, H.; Sacerdote, C.; Schumacher, F.; Sheng, X.; Shu, X. O.; Weiss, N. S.; Xia, L.; Van den Berg, D.; Yang, H. P.; Yu, H.; Chanock, S.; Haiman, C.; Kraft, P.; De Vivo, I.
Article 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. © 2014 Chen et al.
Journal Title: PLoS ONE
Volume: 9
Issue: 5
ISSN: 1932-6203
Publisher: Public Library of Science  
Date Published: 2014-05-08
Start Page: e97045
Language: English
DOI: 10.1371/journal.pone.0097045
PROVIDER: scopus
PMCID: PMC4014590
PUBMED: 24810602
DOI/URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-84901049649&partnerID=40&md5=0252a90be769157dcf3a99ac084dccb8
Notes: PLoS ONE -- Export Date: 2 June 2014 -- CODEN: POLNC -- Source: Scopus
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MSK Authors
  1. Sara H Olson
    234 Olson
  2. Irene Orlow
    247 Orlow
  3. Xiaolin Liang
    62 Liang
  4. Stacey Lee Petruzella
    26 Petruzella
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