Journal
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
Volume 28, Issue 7, Pages 1095-1102Publisher
AMER ASSOC CANCER RESEARCH
DOI: 10.1158/1055-9965.EPI-18-1031
Keywords
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Funding
- National Health and Medical Research Council (NHMRC) Early Career Fellowship [APP1111246]
- Australian Government
- QIMR Berghofer
- NHMRC [APP1061779]
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Endometrial cancer, the most commonly diagnosed cancer of the female reproductive tract in developed countries, has a heritable component. To date, 16 genetic risk regions have been robustly discovered by genome-wide association studies (GWAS) of endometrial cancer. Post-GWAS analyses including expression quantitative trait loci analysis and laboratory-based functional studies have been successful in identifying genes and pathways involved in endometrial carcinogenesis. Mendelian randomization analysis studies have confirmed factors causal for endometrial cancer risk, including increased body mass index and early onset of menarche. In this review, we summarize findings from GWAS and post-GWAS analyses of endometrial cancer. We discuss clinical implications of these findings, current knowledge gaps, and future directions for the study of endometrial cancer genetics.
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