In industrialized nations, endometrial cancer is the most prevalent cancer of the female reproductive system. Researchers previously identified eight risk loci for endometrial cancer using genome-wide association analyses (GWAS). They provide an updated meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (containing additional genotype data for 5624 cases) and uncover nine unique genome-wide significant loci, including one previously found by meta-GWAS of endometrial and colorectal cancer on 12q24.12.
Expression quantitative trait locus (eQTL) analysis uncovers putative causative genes at five loci; risk alleles at two of these loci are associated with reduced expression of genes encoding negative regulators of oncogenic signal transduction proteins (SH2B3 (12q24.12) and NF1 (17q11.2).
In conclusion, this study has increased the number of known endometrial cancer risk loci and identified probable causative genes for further investigation.