AI Article Synopsis
- Cutaneous squamous cell carcinoma (SCC) is a prevalent type of skin cancer in the U.S., with a focus on its genetic factors.
- This study is the largest meta-analysis of SCC, examining over 19,000 cases and nearly 700,000 controls across six international groups.
- Researchers identified eight new genetic variants linked to SCC and confirmed previously known ones, highlighting the importance of genes involved in skin regulation, immune response, and skin cell differentiation in the disease's risk.
Article 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010741 | PMC |
| http://dx.doi.org/10.1038/s41467-020-14594-5 | DOI Listing |
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