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Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
- Rashkin, Sara R;
- Graff, Rebecca E;
- Kachuri, Linda;
- Thai, Khanh K;
- Alexeeff, Stacey E;
- Blatchins, Maruta A;
- Cavazos, Taylor B;
- Corley, Douglas A;
- Emami, Nima C;
- Hoffman, Joshua D;
- Jorgenson, Eric;
- Kushi, Lawrence H;
- Meyers, Travis J;
- Van Den Eeden, Stephen K;
- Ziv, Elad;
- Habel, Laurel A;
- Hoffmann, Thomas J;
- Sakoda, Lori C;
- Witte, John S
- et al.
Published Web Location
https://doi.org/10.1038/s41467-020-18246-6Abstract
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we undertake genome-wide association studies (GWAS) and comprehensive evaluations of heritability and pleiotropy across 18 cancer types in two large, population-based cohorts: the UK Biobank (408,786 European ancestry individuals; 48,961 cancer cases) and the Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging cohorts (66,526 European ancestry individuals; 16,001 cancer cases). The GWAS detect 21 genome-wide significant associations independent of previously reported results. Investigations of pleiotropy identify 12 cancer pairs exhibiting either positive or negative genetic correlations; 25 pleiotropic loci; and 100 independent pleiotropic variants, many of which are regulatory elements and/or influence cross-tissue gene expression. Our findings demonstrate widespread pleiotropy and offer further insight into the complex genetic architecture of cross-cancer susceptibility.
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