Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma

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Date
2020-02-10
Authors
Sarin, Kavita Y.
Lin, Yuan
Daneshjou, Roxana
Ziyatdinov, Andrey
Thorleifsson, Gudmar
Rubin, Adam
Pardo, Luba M.
Wu, Wenting
Khavari, Paul A.
Uitterlinden, Andre
Nijsten, Tamar
Toland, Amanda E.
Olafsson, Jon H.
Sigurgeirsson, Bardur
Thorisdottir, Kristin
Jorgensen, Eric
Whittemore, Alice S.
Kraft, Peter
Stacey, Simon N.
Stefansson, Kari
Asgari, Maryam M.
Han, Jiali
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American English
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Epidemiology, School of Public Health
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Nature Research
Abstract

Cutaneous squamous cell carcinoma (SCC) is one of the most common cancers in the United States. Previous genome-wide association studies (GWAS) have identified 14 single nucleotide polymorphisms (SNPs) associated with cutaneous SCC. Here, we report the largest cutaneous SCC meta-analysis to date, representing six international cohorts and totaling 19,149 SCC cases and 680,049 controls. We discover eight novel loci associated with SCC, confirm all previously associated loci, and perform fine mapping of causal variants. The novel SNPs occur within skin-specific regulatory elements and implicate loci involved in cancer development, immune regulation, and keratinocyte differentiation in SCC susceptibility.

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Cancer genetics, Genome-wide association studies
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Sarin, K. Y., Lin, Y., Daneshjou, R., Ziyatdinov, A., Thorleifsson, G., Rubin, A., Pardo, L. M., Wu, W., Khavari, P. A., Uitterlinden, A., Nijsten, T., Toland, A. E., Olafsson, J. H., Sigurgeirsson, B., Thorisdottir, K., Jorgensen, E., Whittemore, A. S., Kraft, P., Stacey, S. N., Stefansson, K., … Han, J. (2020). Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. Nature communications, 11(1), 820. https://doi.org/10.1038/s41467-020-14594-5
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Nature Communications
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Attribution 4.0 International Creative Commons licenses
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Article
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https://hdl.handle.net/1805/22457
DOI
https://doi.org/10.1038/s41467-020-14594-5
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Final published version
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