ID
45195
Descrição
Principal Investigator: Todd Golub, Broad Institute, Cambridge, MA and Dana Farber Cancer Institute, Boston, MA, USA MeSH: Head and Neck Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000370 This study was the first-known large-scale effort to uncover the mutational spectrum of head and neck cancers. We analyzed whole-exome sequence from 92 tumor-normal pairs and retained 74 of them for significance analysis. The majority exhibited a mutational profile consistent with tobacco exposure; human papilloma virus sequence was detectable in 15% of cases. In addition to identifying previously known HNSCC genes (*TP53, CDKN2A, PTEN, PIK3CA, and HRAS*), the analysis revealed many genes not previously implicated in this malignancy. At least 30% of cases harbor mutations in genes (such as *NOTCH1, IRF6, TP63*) that regulate squamous differentiation, implicating alterations in this process as a major driver of HNSCC carcinogenesis. Altogether, the results suggest that large-scale exome sequencing may illuminate fundamental tumorigenic mechanisms with important therapeutic implications.
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Versões (2)
- 19/08/2022 19/08/2022 - Simon Heim
- 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos
Todd Golub, Broad Institute, Cambridge, MA and Dana Farber Cancer Institute, Boston, MA, USA
Transferido a
12 de outubro de 2022
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Licença
Creative Commons BY 4.0
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dbGaP phs000370 The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
pht002382.v2.p1
- StudyEvent: SEV1
- Subject ID and consent group of patients with head and neck cancer.
- pht002382.v2.p1
- Subject ID, age, gender, race, primary diagnosis, history of alcohol consumption and tobacco use among patients with head and neck cancer.
- Sample ID, outside hospital diagnosis of tumor, tumor/normal tissue status of samples, body site where from sample was collected, percent of nucleated cells consist of tumor cells, analyte type, and primary tumor location of samples obtained from patients with head and neck cancer.
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pht002382.v2.p1
- StudyEvent: SEV1
- Subject ID and consent group of patients with head and neck cancer.
- pht002382.v2.p1
- Subject ID, age, gender, race, primary diagnosis, history of alcohol consumption and tobacco use among patients with head and neck cancer.
- Sample ID, outside hospital diagnosis of tumor, tumor/normal tissue status of samples, body site where from sample was collected, percent of nucleated cells consist of tumor cells, analyte type, and primary tumor location of samples obtained from patients with head and neck cancer.
C0370003 (UMLS CUI [1,2])
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