Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts

Sara R. Rashkin, Rebecca E. Graff, Linda Kachuri, Khanh K. Thai, Stacey E. Alexeeff, Maruta A. Blatchins, Taylor B. Cavazos, Douglas A. Corley, Nima C. Emami, Joshua D. Hoffman, Eric Jorgenson, Lawrence H. Kushi, Travis J. Meyers, Stephen K. Eeden, Elad Ziv, Laurel A. Habel, Thomas J. Hoffmann, Lori C. Sakoda () and John S. Witte ()
Additional contact information
Sara R. Rashkin: University of California, San Francisco
Rebecca E. Graff: University of California, San Francisco
Linda Kachuri: University of California, San Francisco
Khanh K. Thai: Kaiser Permanente Northern California
Stacey E. Alexeeff: Kaiser Permanente Northern California
Maruta A. Blatchins: Kaiser Permanente Northern California
Taylor B. Cavazos: University of California, San Francisco
Douglas A. Corley: Kaiser Permanente Northern California
Nima C. Emami: University of California, San Francisco
Joshua D. Hoffman: University of California, San Francisco
Eric Jorgenson: Kaiser Permanente Northern California
Lawrence H. Kushi: Kaiser Permanente Northern California
Travis J. Meyers: University of California, San Francisco
Stephen K. Eeden: Kaiser Permanente Northern California
Elad Ziv: University of California, San Francisco
Laurel A. Habel: Kaiser Permanente Northern California
Thomas J. Hoffmann: University of California, San Francisco
Lori C. Sakoda: Kaiser Permanente Northern California
John S. Witte: University of California, San Francisco

Nature Communications, 2020, vol. 11, issue 1, 1-14

Abstract: Abstract 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.

Date: 2020
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DOI: 10.1038/s41467-020-18246-6

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