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Cutaneous squamous cell carcinoma (cSCC) is a form of skin cancer originating from keratinocytes in the skin. They have high mutation burdens, primarily driven by UV-radiation-induced DNA damage. The order in which mutations undergo selection during the evolution of cSCC is not known. A subset of cSCCs grow out of benign neoplasms called actinic keratoses. To better understand the evolution of cSCC, we identified cases of cSCCs adjacent to actinic keratoses. From these cases, we separately microdissected the surrounding normal skin, the actinic keratosis, and the cSCC, and we performed targeted DNA-sequencing on the tissue from each area. We reconstructed tumor phylogenies and performed spatial transcriptomics on the 10X FFPE Visium platform on a subset of cases. Collectively, these studies revealed the mutational and gene expression changes that arise during the evolution of cSCC.
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- Study Design:
- Methods
- Study Type:
- Aggregate Genomic Data
- Copy Number Variation (CNV)
- Exome Sequencing
- Methods Development
- Transcriptome Analysis
- Transcriptome Sequencing
- Tumor vs. Matched-Normal
- Total number of consented subjects: 16
- Subject Sample Telemetry Report (SSTR)
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- Publicly Available Data
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- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: DNA Copy Number Variation
- Sequence Analysis, RNA
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- Study Attribution
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Principal Investigator
- A. Hunter Shain. University of California, San Francisco, CA, USA.
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Principal Investigator