Summary
This meta-analysis of genome-wide association studies identified nine previously unknown susceptibility loci for endometrial cancer, doubling the number of established risk loci from eight to seventeen. Using data from over 12,900 endometrial cancer cases and 109,000 controls, the authors conducted eQTL analyses to identify candidate causal genes at five loci, notably implicating SH2B3 and NF1 as genes encoding negative regulators of oncogenic signalling. The findings provide a foundation for future functional studies and may inform understanding of endometrial cancer aetiology.
UK applicability
As a large-scale genetic association study, the findings are relevant to UK clinical and research populations, particularly for understanding inherited susceptibility to endometrial cancer. The identified loci may inform future risk stratification and screening strategies if translated into clinical practice, though the study itself is observational and does not address dietary or farming-system factors that might modify genetic risk.
Key measures
Genome-wide association test statistics; expression quantitative trait locus (eQTL) associations; odds ratios for risk alleles at novel loci
Outcomes reported
The study identified nine novel genome-wide significant loci associated with endometrial cancer risk through meta-analysis of 12,906 cases and 108,979 controls. Expression quantitative trait locus analyses at five loci revealed candidate causal genes, including SH2B3 and NF1, which encode negative regulators of oncogenic signalling proteins.
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