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.

The authors perform a meta-analysis of cutaneous squamous cell carcinoma, identifying causal variants within skin-specific regulatory elements.

Details

Title
Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma
Author
Sarin, Kavita Y 1   VIAFID ORCID Logo  ; Lin, Yuan 2   VIAFID ORCID Logo  ; Daneshjou Roxana 1 ; Ziyatdinov Andrey 3 ; Thorleifsson Gudmar 4 ; Rubin, Adam 1 ; Pardo, Luba M 5 ; Wu, Wenting 2 ; Khavari, Paul A 1   VIAFID ORCID Logo  ; Uitterlinden Andre 6   VIAFID ORCID Logo  ; Nijsten Tamar 5   VIAFID ORCID Logo  ; Toland, Amanda E 7   VIAFID ORCID Logo  ; Olafsson, Jon H 8 ; Bardur, Sigurgeirsson 8 ; Thorisdottir Kristin 8 ; Jorgensen, Eric 9   VIAFID ORCID Logo  ; Whittemore, Alice S 10 ; Kraft, Peter 3   VIAFID ORCID Logo  ; Stacey, Simon N 4   VIAFID ORCID Logo  ; Stefansson Kari 11   VIAFID ORCID Logo  ; Asgari, Maryam M 12   VIAFID ORCID Logo  ; Han, Jiali 2 

1  Stanford University School of Medicine, Department of Dermatology, Redwood City, USA (GRID:grid.168010.e) (ISNI:0000000419368956) 
2  Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, 1050 Wishard Blvd, Department of Epidemiology, Indianapolis, USA (GRID:grid.257413.6) (ISNI:0000 0001 2287 3919) 
3  Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, USA (GRID:grid.38142.3c) (ISNI:000000041936754X) 
4  deCODE genetics/Amgen Inc., Reykjavik, Iceland (GRID:grid.38142.3c) 
5  Erasmus University Medical Center, Department of Dermatology, Rotterdam, The Netherlands (GRID:grid.5645.2) (ISNI:000000040459992X) 
6  Erasmus University Medical Center, Department of Internal Medicine, Rotterdam, The Netherlands (GRID:grid.5645.2) (ISNI:000000040459992X) 
7  Division of Human Genetics, Comprehensive Cancer Center, Ohio State University, Departments of Cancer Biology and Genetics and Department of Internal Medicine, Columbus, USA (GRID:grid.261331.4) (ISNI:0000 0001 2285 7943) 
8  Landspitali-University Hospital, Reykjavik, Iceland (GRID:grid.410540.4) (ISNI:0000 0000 9894 0842); University of Iceland, Faculty of Medicine, Reykjavik, Iceland (GRID:grid.14013.37) (ISNI:0000 0004 0640 0021) 
9  Kaiser Permanente Northern California, Division of Research, Oakland, USA (GRID:grid.280062.e) (ISNI:0000 0000 9957 7758) 
10  Stanford University School of Medicine Redwood Bldg, Departments of Epidemiology and Population Health and of Biomedical Data Sciences, Stanford, USA (GRID:grid.168010.e) (ISNI:0000000419368956) 
11  deCODE genetics/Amgen Inc., Reykjavik, Iceland (GRID:grid.38142.3c); University of Iceland, Faculty of Medicine, Reykjavik, Iceland (GRID:grid.14013.37) (ISNI:0000 0004 0640 0021) 
12  Massachusetts General Hospital, Department of Dermatology, Boston, USA (GRID:grid.32224.35) (ISNI:0000 0004 0386 9924) 
Publication year
2020
Publication date
2020
Publisher
Nature Publishing Group
e-ISSN
20411723
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41467-020-14594-5
ProQuest document ID
2352998656
Copyright
This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.