A New Mutation in Cutaneous Squamous Cell Carcinoma

A UV-signature recurrent point mutation was identified in 19% of cuSCC samples, pointing to a new oncogene candidate.

Cutaneous squamous cell carcinoma (cuSCC) has only recently come under the searchlight of deep genomic analysis. Part of the difficulty in identifying potential oncogenes that drive cuSCC development is the high mutational load — the highest of any human cancer directly related to ultraviolet light (UV) exposure.

Lee and colleagues employed a creative approach to address this difficulty: They first performed comprehensive exome sequencing across 12 cuSCC samples. They then performed focused, deep resequencing of 336 candidate genes selected because of their expression in keratinocytes in an additional 100 cuSCCs.

The researchers identified a novel potential oncogene, KNSTRN (kinastrin). A UV-signature recurrent point mutation in p.Ser24Phe wa…

Reviewing Author

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

A New Mutation in Cutaneous Squamous Cell Carcinoma

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Reviewing Author