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Massive parallel sequencing of head and neck conventional squamous cell carcinomas: A comprehensive review
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Orientador(es)
Resumo(s)
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide and is a cause of signifcant mortality and morbidity. The epidemiology of this cancer varies worldwide due to either genetic diferences in populations or diferences in carcinogen exposure. The application of massive parallel sequencing-based techniques in HNSCC should provide a helpful understanding of the genetic alterations that eventually lead to HNSCC development and progression, and ideally, could be used for personalized therapy. In this review, the reader will fnd an overview of the mutational profle of conventional HNSCC according to published results on massive parallel sequencing data that confrm the pivotal role of TP53 and the frequent involvement of CDKN2A and PIK3CA. The reader will also fnd a more detailed description of the genes, such as NOTCH1 and FBXW7, that were not identifed in HNSCCs before the development of these techniques, the diferences that can be site-specifc, such as the diferent mutational signatures that indicate specifc carcinogens for various subsites of the head and neck, and fnally, the actionability of these fndings that should allow more personalized therapy for patients.
Descrição
Palavras-chave
NGS Larynx Oral cavity Hypopharynx Oropharynx Mutation
Contexto Educativo
Citação
Editora
Springer Science