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Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1

Agrawal, Nishant ; Frederick, Mitchell J. ; Pickering, Curtis R. ; Bettegowda, Chetan ; Chang, Kyle ; Li, Ryan J. ; Fakhry, Carole ; Xie, Tong-Xin ; Zhang, Jiexin ; Wang, Jing ; Zhang, Nianxiang ; El-Naggar, Adel K. ; Jasser, Samar A. ; Weinstein, John N. ; Treviño, Lisa ; Drummond, Jennifer A. ; Muzny, Donna M. ; Wu, Yuanqing ; Wood, Laura D. ; Hruban, Ralph H. ; Westra, William H. ; Koch, Wayne M. ; Califano, Joseph A. ; Gibbs, Richard A. ; Sidransky, David ; Vogelstein, Bert ; Velculescu, Victor E. ; Papadopoulos, Nickolas ; Wheeler, David A. ; Kinzler, Kenneth W. ; Myers, Jeffrey N.

Science (American Association for the Advancement of Science), 2011-08, Vol.333 (6046), p.1154-1157 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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Título:
Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
Autor: Agrawal, Nishant ; Frederick, Mitchell J. ; Pickering, Curtis R. ; Bettegowda, Chetan ; Chang, Kyle ; Li, Ryan J. ; Fakhry, Carole ; Xie, Tong-Xin ; Zhang, Jiexin ; Wang, Jing ; Zhang, Nianxiang ; El-Naggar, Adel K. ; Jasser, Samar A. ; Weinstein, John N. ; Treviño, Lisa ; Drummond, Jennifer A. ; Muzny, Donna M. ; Wu, Yuanqing ; Wood, Laura D. ; Hruban, Ralph H. ; Westra, William H. ; Koch, Wayne M. ; Califano, Joseph A. ; Gibbs, Richard A. ; Sidransky, David ; Vogelstein, Bert ; Velculescu, Victor E. ; Papadopoulos, Nickolas ; Wheeler, David A. ; Kinzler, Kenneth W. ; Myers, Jeffrey N.
Assuntos: Biological and medical sciences ; Cancer ; Carcinoma - drug therapy ; Carcinoma - genetics ; Carcinoma - virology ; Carcinoma, Squamous Cell ; Cell Cycle Proteins - genetics ; Codon, Nonsense ; Exons ; F-Box Proteins - genetics ; F-Box-WD Repeat-Containing Protein 7 ; Gene Dosage ; Genes, p53 ; Genes, Tumor Suppressor ; Genetic mutation ; Genetics ; Head ; Head & neck cancer ; Head and Neck Neoplasms - drug therapy ; Head and Neck Neoplasms - genetics ; Head and Neck Neoplasms - virology ; Human genetics ; Humans ; INDEL Mutation ; Medical genetics ; Medical sciences ; Mutation ; Mutation, Missense ; Neoplasms, Squamous Cell - drug therapy ; Neoplasms, Squamous Cell - genetics ; Neoplasms, Squamous Cell - virology ; Nicotiana ; Nonsense ; Oligonucleotide Array Sequence Analysis ; Oncogenes ; Otorhinolaryngology (head neck, general aspects and miscellaneous) ; Otorhinolaryngology. Stomatology ; Papillomaviridae - isolation & purification ; Papillomavirus Infections - virology ; Receptor, Notch1 - chemistry ; Receptor, Notch1 - genetics ; Risk factors ; Sequence Analysis, DNA ; Sequencing ; Smoking ; Squamous Cell Carcinoma of Head and Neck ; Tobacco ; Tumor suppressor genes ; Tumors ; Ubiquitin-Protein Ligases - genetics
É parte de: Science (American Association for the Advancement of Science), 2011-08, Vol.333 (6046), p.1154-1157
Notas: These authors contributed equally to this work.
Descrição: Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. To explore the genetic origins of this cancer, we used whole-exome sequencing and gene copy number analyses to study 32 primary tumors. Tumors from patients with a history of tobacco use had more mutations than did tumors from patients who did not use tobacco, and tumors that were negative for human papillomavirus (HPV) had more mutations than did HPV-positive tumors. Six of the genes that were mutated in multiple tumors were assessed in up to 88 additional HNSCCs. In addition to previously described mutations in TP53, CDKN2A, PIK3CA, and HRAS, we identified mutations in FBXW7 and NOTCH1. Nearly 40% of the 28 mutations identified in NOTCH1 were predicted to truncate the gene product, suggesting that NOTCH1 may function as a tumor suppressor gene rather than an oncogene in this tumor type.
Editor: Washington, DC: American Association for the Advancement of Science
Idioma: Inglês

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Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1

Washington, DC: American Association for the Advancement of Science

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