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

Kavita Y. Sarin, Yuan Lin, Roxana Daneshjou, Andrey Ziyatdinov, Gudmar Thorleifsson, Adam Rubin, Luba M. Pardo, Wenting Wu, Paul A. Khavari, Andre Uitterlinden, Tamar Nijsten, Amanda E. Toland, Jon H. Olafsson, Bardur Sigurgeirsson, Kristin Thorisdottir, Eric Jorgensen, Alice S. Whittemore, Peter Kraft, Simon N. Stacey, Kari StefanssonMaryam M. Asgari, Jiali Han

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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.

Original languageEnglish (US)
Article number820
JournalNature communications
Volume11
Issue number1
DOIs
StatePublished - Dec 1 2020

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ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

Cite this

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., ... 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