Next‐generation sequencing identifies novel single nucleotide polymorphisms in high‐risk cutaneous squamous cell carcinoma: A pilot study

Authors:
Open Access
Publisher website
Google Scholar
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 analyzed 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 are synonymous SNPs, there is growing evidence suggesting clinical relevance of these variants. A larger cohort to validate these findings would be useful.

This publication has 32 references indexed in Scilit: