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Nat Commun. 2020 Feb 10;11(1):820. doi: 10.1038/s41467-020-14594-5.

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

Author information

1
Department of Dermatology, Stanford University School of Medicine, 450 Broadway St, C-229, Redwood City, CA, 94305, USA. ksarin@stanford.edu.
2
Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd, Indianapolis, IN, 46202, USA.
3
Department of Dermatology, Stanford University School of Medicine, 450 Broadway St, C-229, Redwood City, CA, 94305, USA.
4
Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.
5
deCODE genetics/Amgen Inc., Sturlugata 8, 101, Reykjavik, Iceland.
6
Department of Dermatology, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015, GD, Rotterdam, The Netherlands.
7
Department of Internal Medicine, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015, GD, Rotterdam, The Netherlands.
8
Departments of Cancer Biology and Genetics and Department of Internal Medicine, Division of Human Genetics, Comprehensive Cancer Center, Ohio State University, 460W. 12th Ave, Columbus, OH, 43420, USA.
9
Landspitali-University Hospital, Skaftahild 24, 105, Reykjavik, Iceland.
10
Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101, Reykjavik, Iceland.
11
Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.
12
Departments of Epidemiology and Population Health and of Biomedical Data Sciences, Stanford University School of Medicine Redwood Bldg, T204, Stanford, 94305, CA, USA.
13
Department of Dermatology, Massachusetts General Hospital, 50 Staniford Street, Suite 270, 02114, Boston, MA, USA.
14
Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd, Indianapolis, IN, 46202, USA. jialhan@iu.edu.

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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