Identification of nine new susceptibility loci for endometrial cancer

Tracy A. O’Mara, Håkan Olsson, Deborah J. Thompson, et al.

Research output: Contribution to journalArticlepeer-review


Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes; risk alleles at two of these loci associate with decreased expression of genes, which encode negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2)). In summary, this study has doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study. © 2018, The Author(s).
Original languageEnglish
Article number3166
JournalNature Communications
Issue number1
Publication statusPublished - 2018

Bibliographical note

Export Date: 6 September 2018

Subject classification (UKÄ)

  • Medical Genetics
  • Cancer and Oncology


Dive into the research topics of 'Identification of nine new susceptibility loci for endometrial cancer'. Together they form a unique fingerprint.

Cite this