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Full-Text Articles in Dermatology
Elevated Apobec Mutational Signatures Implicate Chronic Injury In Etiology Of An Aggressive Head-And-Neck Squamous Cell Carcinoma: A Case Report., Jena Patel, Nicoline Y. Den Breems, Madalina Tuluc, Jennifer Johnson, Joseph M. Curry, Andrew P. South, Raymond J. Cho
Elevated Apobec Mutational Signatures Implicate Chronic Injury In Etiology Of An Aggressive Head-And-Neck Squamous Cell Carcinoma: A Case Report., Jena Patel, Nicoline Y. Den Breems, Madalina Tuluc, Jennifer Johnson, Joseph M. Curry, Andrew P. South, Raymond J. Cho
Department of Otolaryngology - Head and Neck Surgery Faculty Papers
BACKGROUND: Aggressive squamous cell carcinomas (SCCs) present frequently in the context of chronic skin injury occurring in patients with the congenital blistering disease recessive dystrophic epidermolysis bullosa. Recently, these cancers were shown to harbor mutation signatures associated with endogenous deaminases of the active polynucleotide cytosine deaminase family, collectively termed APOBEC, and clock-like COSMIC [Catalogue of Somatic Mutations in Cancer] signatures, which are associated with normal aging and might result from cumulative DNA replication errors. We present a case of a nasal septal SCC arising in the context of recurrent injury, but also modest past tobacco use. Our genetic analysis of …