Next‐generation sequencing identifies novel single nucleotide polymorphisms in high‐risk cutaneous squamous cell carcinoma: A pilot study. Issue 7 (9th July 2020)

• Record Type: Journal Article
• Authors: Lobl, Marissa B.; Hass, Blake; Clarey, Dillon; Higgins, Shauna; Wysong, Ashley
• Is Part Of: Experimental dermatology. Volume 29:Issue 7(2020)
• Page Start: 667
• Page End: 671
• Publication Date: 2020-07-09
• Subjects: cutaneous squamous cell carcinoma -- genomics -- high‐risk -- SNPs; Dermatology -- Periodicals; 616.5
• DOI: 10.1111/exd.14120
• Languages: English
• ISSNs: 0906-6705

Abstract

Abstract: Background: Cutaneous squamous cell carcinoma (SCC) causes 1 million cases in the United States annually. There are germline single nucleotide polymorphisms (SNPs) that result in an increased risk of SCC and altered response to therapy. Premise: There may be biologically relevant SNPs not detected using traditional GWAS studies. Hypothesis: There are clinically and biologically relevant SNPs in high‐risk SCC that may only be appreciated with next‐generation sequencing. How to test hypothesis: We performed next‐generation sequencing (NGS) on primary SCCs using a targeted mutation panel with 76 cancer‐associated genes. We analysed the presence of SNPs in a cohort of 20 high‐risk SCCs compared to the American population (AP) (dbSNP). Relevance and perspectives: Missense rs3822214 was present in significantly more SCC cases versus the AP. While the remainder is synonymous SNPs, there is growing evidence suggesting clinical relevance of these variants. A larger cohort to validate these findings would be useful.