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.
Keywords: SNPs; cutaneous squamous cell carcinoma; genomics; high-risk.
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.