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

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadCutaneous 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.United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Human Genome Research Institute (NHGRI) United States Department of Health & Human Services National Institutes of Health (NIH) - USA Walther Cancer Foundation Damon Runyon Cancer Research Foundation Erasmus Medical Center and Erasmus University Rotterdam Netherlands Organization for Health Research and Development Research Institute for Diseases in the Elderly (RIDE) Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Ministry for Health, Welfare and Sports European Commission Joint Research Centre Municipality of Rotterda