rs34567942 a Novel Susceptibility Single Nucleotide Polymorphism for Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients.

Journal Compilation © 2020 Acta Dermato-Venereologica. doi: 10.2340/00015555-3322 Cutaneous squamous cell carcinoma (cSCC) is the second most common type of solid human tumour and a main cause of cancer-related death in the general population (1, 2). Typically, it emerges on ultraviolet (UV)exposed sun-damaged skin from benign intraepithelial lesions called actinic keratosis (AK) (3, 4). High-risk patient groups, such as organ transplant recipients (OTR), display a 65–250-fold increase in cSCC, making cSCC the most frequent cancer in this group (5). However, not all OTR develop cSCC, while some develop a multiplicity of sSCC (1). This discrepancy is the major focus of the current study. Specific genetic factors, such as single nucleotide polymorphisms (SNPs) determining cSCC susceptibility in OTRs, have been little-studied. Only a few papers have addressed this topic (6–8). Moreover, only one group has performed genome-wide association studies (GWAS), replicating 10 candidate SNPs previously associated with skin cancer in the general population; however, they did not show SNP-significant genome-wide association with cSCC in the OTRs (7). Our GWAS revealed novel OTRspecific SNP associated with cSCC susceptibility in OTR.