Title |
Genome-wide association study of endometrial cancer in E2C2
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Published in |
Human Genetics, October 2013
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DOI | 10.1007/s00439-013-1369-1 |
Pubmed ID | |
Authors |
Immaculata De Vivo, Jennifer Prescott, Veronica Wendy Setiawan, Sara H. Olson, Nicolas Wentzensen, The Australian National Endometrial Cancer Study Group, John Attia, Amanda Black, Louise Brinton, Chu Chen, Constance Chen, Linda S. Cook, Marta Crous-Bou, Jennifer Doherty, Alison M. Dunning, Douglas F. Easton, Christine M. Friedenreich, Montserrat Garcia-Closas, Mia M. Gaudet, Christopher Haiman, Susan E. Hankinson, Patricia Hartge, Brian E. Henderson, Elizabeth Holliday, Pamela L. Horn-Ross, David J. Hunter, Loic Le Marchand, Xiaolin Liang, Jolanta Lissowska, Jirong Long, Lingeng Lu, Anthony M. Magliocco, Mark McEvoy, Tracy A. O’Mara, Irene Orlow, Jodie N. Painter, Loreall Pooler, Radhai Rastogi, Timothy R. Rebbeck, Harvey Risch, Carlotta Sacerdote, Fredrick Schumacher, Rodney J. Scott, Xin Sheng, Xiao-ou Shu, Amanda B. Spurdle, Deborah Thompson, David VanDen Berg, Noel S. Weiss, Lucy Xia, Yong-Bing Xiang, Hannah P. Yang, Herbert Yu, Wei Zheng, Stephen Chanock, Peter Kraft |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Belgium | 1 | 2% |
Unknown | 43 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 15 | 34% |
Student > Ph. D. Student | 10 | 23% |
Student > Bachelor | 3 | 7% |
Other | 2 | 5% |
Student > Postgraduate | 2 | 5% |
Other | 4 | 9% |
Unknown | 8 | 18% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 11 | 25% |
Agricultural and Biological Sciences | 7 | 16% |
Medicine and Dentistry | 7 | 16% |
Neuroscience | 3 | 7% |
Social Sciences | 1 | 2% |
Other | 1 | 2% |
Unknown | 14 | 32% |