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Updated: Dec 20, 2025
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Next-generation sequencing identifies novel single nucleotide polymorphisms in high-risk cutaneous squamous cell
Marissa B Lobl1, Blake Hass2, Dillon Clarey1
1Department of Dermatology, University of Nebraska Medical Center, Omaha, NE, USA.
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.
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Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
02:26Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...