Genome-wide association study of endometrial cancer in E2C2

Immaculata De Vivo, Jennifer Prescott, Veronica Wendy Setiawan, Sara H. Olson, Nicolas Wentzensen, 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. HankinsonPatricia 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

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)211-224
Number of pages14
JournalHuman genetics
Issue number2
StatePublished - Feb 2014
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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