Genome-wide association study of endometrial cancer in E2C2.

Publication Type:

Journal Article


Human genetics, Volume 133, Issue 2, p.211-24 (2014)


2014, African Americans, Aged, Asian Continental Ancestry Group, Case-Control Studies, Center-Authored Paper, Cohort Studies, Endometrial Neoplasms, European Continental Ancestry Group, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Hepatocyte Nuclear Factor 1-beta, Humans, Middle Aged, November 2013, Polymorphism, Single Nucleotide, Public Health Sciences Division, Risk Factors, Specimen Processing Core Facility, United States


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.