The mutational landscape of head and neck squamous cell carcinoma.
Science
; 333(6046): 1157-60, 2011 Aug 26.
Article
em En
| MEDLINE
| ID: mdl-21798893
ABSTRACT
Head and neck squamous cell carcinoma (HNSCC) is a common, morbid, and frequently lethal malignancy. To uncover its mutational spectrum, we analyzed whole-exome sequencing data from 74 tumor-normal pairs. The majority exhibited a mutational profile consistent with tobacco exposure; human papillomavirus was detectable by sequencing DNA from infected tumors. In addition to identifying previously known HNSCC genes (TP53, CDKN2A, PTEN, PIK3CA, and HRAS), our analysis revealed many genes not previously implicated in this malignancy. At least 30% of cases harbored mutations in genes that regulate squamous differentiation (for example, NOTCH1, IRF6, and TP63), implicating its dysregulation as a major driver of HNSCC carcinogenesis. More generally, the results indicate the ability of large-scale sequencing to reveal fundamental tumorigenic mechanisms.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Carcinoma
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Análise de Sequência de DNA
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Neoplasias de Células Escamosas
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Receptor Notch1
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Neoplasias de Cabeça e Pescoço
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Mutação
Limite:
Humans
Idioma:
En
Revista:
Science
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Estados Unidos