Genome-wide association study of endometrial cancer in E2C2

Hum Genet. 2014 Feb;133(2):211-24. doi: 10.1007/s00439-013-1369-1. Epub 2013 Oct 6.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • African Americans / genetics
  • Aged
  • Asian Continental Ancestry Group / genetics
  • Case-Control Studies
  • Cohort Studies
  • Endometrial Neoplasms / genetics*
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Hepatocyte Nuclear Factor 1-beta / genetics
  • Humans
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors
  • United States / epidemiology

Substances

  • HNF1B protein, human
  • Hepatocyte Nuclear Factor 1-beta