Journal article

Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers

Dylan M Glubb, Deborah J Thompson, Katja KH Aben, Ahmad Alsulimani, Frederic Amant, Daniela Annibali, John Attia, Aurelio Barricarte, Matthias W Beckmann, Andrew Berchuck, Marina Bermisheva, Marcus Q Bernardini, Katharina Bischof, Line Bjorge, Clara Bodelon, Alison H Brand, James D Brenton, Louise A Brinton, Fiona Bruinsma, Daniel D Buchanan Show all



BACKGROUND: Accumulating evidence suggests a relationship between endometrial cancer and ovarian cancer. Independent genome-wide association studies (GWAS) for endometrial cancer and ovarian cancer have identified 16 and 27 risk regions, respectively, four of which overlap between the two cancers. We aimed to identify joint endometrial and ovarian cancer risk loci by performing a meta-analysis of GWAS summary statistics from these two cancers. METHODS: Using LDScore regression, we explored the genetic correlation between endometrial cancer and ovarian cancer. To identify loci associated with the risk of both cancers, we implemented a pipeline of statistical genetic analyses (i.e., inverse-va..

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University of Melbourne Researchers


Awarded by National Health and Medical Research Council (NHMRC)

Awarded by CanToo Foundation

Awarded by NHMRC

Funding Acknowledgements

We thank ECAC and OCAC for provision of summary statistics to perform this study. We thank Siddhartha Kar for his helpful discussions and advice for designing the genetic analysis approaches. Full acknowledgments and funding for ECAC and OCAC can be found in the Supplementary Note. T.A. O'Mara is supported by a National Health and Medical Research Council (NHMRC) Early Career Fellowship (APP1111246) and Investigator Fellowship (APP1173170). A.B. Spurdle is supported by an NHMRC Senior Research Fellowship (APP1061779) and Investigator Fellowship (APP1177524). This work was supported by a Cancer Australia PdCCRS Project Grant, funded by Cure Cancer Australia and the CanToo Foundation (#1138084), NHMRC project grants (APP1158083 and APP1109286), QIMR Berghofer Medical Research Institute Near Miss Funding, and a special purpose donation gratefully received from Sarah Stork.