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Updated: Dec 28, 2025

A Robust Discovery Platform for the Identification of Novel Mediators of Melanoma Metastasis
Published on: March 8, 2022
Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma
Kavita Y Sarin1, Yuan Lin2, Roxana Daneshjou3
1Department of Dermatology, Stanford University School of Medicine, 450 Broadway St, C-229, Redwood City, CA, 94305, USA. ksarin@stanford.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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