Genome-wide association study of endometrial cancer in E2C2 Journal Article


Authors: De Vivo, I.; Prescott, J.; Setiawan, V. W.; Olson, S. H.; Wentzensen, N.; Attia, J.; Black, A.; Brinton, L.; Chen, C.; Cook, L. S.; Crous-Bou, M.; Doherty, J.; Dunning, A. M.; Easton, D. F.; Friedenreich, C. M.; Garcia-Closas, M.; Gaudet, M. M.; Haiman, C.; Hankinson, S. E.; Hartge, P.; Henderson, B. E.; Holliday, E.; Horn-Ross, P. L.; Hunter, D. J.; Le Marchand, L.; Liang, X.; Lissowska, J.; Long, J.; Lu, L.; Magliocco, A. M.; Mcevoy, M.; O'Mara, T. A.; Orlow, I.; Painter, J. N.; Pooler, L.; Rastogi, R.; Rebbeck, T. R.; Risch, H.; Sacerdote, C.; Schumacher, F.; Scott, R. J.; Sheng, X.; Shu, X. O.; Spurdle, A. B.; Thompson, D.; Vanden Berg, D.; Weiss, N. S.; Xia, L.; Xiang, Y. B.; Yang, H. P.; Yu, H.; Zheng, W.; Chanock, S.; Kraft, P.
Article Title: Genome-wide association study of endometrial cancer in E2C2
Abstract: Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility. © 2013 The Author(s).
Journal Title: Human Genetics
Volume: 133
Issue: 2
ISSN: 0340-6717
Publisher: Springer  
Date Published: 2014-02-01
Start Page: 211
End Page: 224
Language: English
DOI: 10.1007/s00439-013-1369-1
PROVIDER: scopus
PMCID: PMC3898362
PUBMED: 24096698
DOI/URL:
Notes: Export Date: 3 March 2014 -- CODEN: HUGED -- 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. Radhai Manickam Rastogi
    10 Rastogi