| Title: | Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts |
| Journal: | Nature Communications |
| Published: | 4 Sep 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32887889/ |
| DOI: | https://doi.org/10.1038/s41467-020-18246-6 |
| URL: | https://www.nature.com/articles/s41467-020-18246-6.pdf |
| Citations: | 171 (84 in last 2 years) as of 8 Aug 2024 |
Publication 3368
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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.19 Authors
- 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. Van Den Eeden
- Elad Ziv
- Laurel A. Habel
- Thomas J. Hoffmann
- Lori C. Sakoda
- John S. Witte
1 Application
| Application ID | Title |
|---|---|
| 14105 | Characterizing the Shared Genetic Basis of Common Cancers |
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