Dissemin is shutting down on January 1st, 2025

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Nature Research, Nature Communications, 1(11), 2020

DOI: 10.1038/s41467-020-14594-5

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

Journal article published in 2020 by Kavita Y. Sarin ORCID, Yuan Lin ORCID, Roxana Daneshjou ORCID, Andrey Ziyatdinov, Gudmar Thorleifsson, Adam Rubin, Luba M. Pardo, Wenting Wu, Paul A. Khavari ORCID, Andre Uitterlinden ORCID, Tamar Nijsten ORCID, Amanda E. Toland ORCID, Jon H. Olafsson, Bardur Sigurgeirsson ORCID, Kristin Thorisdottir and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractCutaneous 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.