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 Stefansson, Maryam M. Asgari and Jiali Han ()
Additional contact information
Kavita Y. Sarin: Stanford University School of Medicine
Yuan Lin: Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd
Roxana Daneshjou: Stanford University School of Medicine
Andrey Ziyatdinov: Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health
Gudmar Thorleifsson: deCODE genetics/Amgen Inc.
Adam Rubin: Stanford University School of Medicine
Luba M. Pardo: Erasmus University Medical Center
Wenting Wu: Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd
Paul A. Khavari: Stanford University School of Medicine
Andre Uitterlinden: Erasmus University Medical Center
Tamar Nijsten: Erasmus University Medical Center
Amanda E. Toland: Division of Human Genetics, Comprehensive Cancer Center, Ohio State University
Jon H. Olafsson: Landspitali-University Hospital
Bardur Sigurgeirsson: Landspitali-University Hospital
Kristin Thorisdottir: Landspitali-University Hospital
Eric Jorgensen: Kaiser Permanente Northern California
Alice S. Whittemore: Stanford University School of Medicine Redwood Bldg
Peter Kraft: Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health
Simon N. Stacey: deCODE genetics/Amgen Inc.
Kari Stefansson: deCODE genetics/Amgen Inc.
Maryam M. Asgari: Massachusetts General Hospital
Jiali Han: Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd

Nature Communications, 2020, vol. 11, issue 1, 1-8

Abstract: 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.

Date: 2020
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DOI: 10.1038/s41467-020-14594-5

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