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Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
To explore the genetic origins of head and neck squamous cell carcinoma, whole-exome sequencing and gene copy number analyses were used to study 32 primary tumors and identified mutations in FBXW7 and NotCH1, suggesting that NOTCH1 may function as a tumor suppressor gene rather than an oncogene in this tumor type. Expand
Nomenclature Revision for Encapsulated Follicular Variant of Papillary Thyroid Carcinoma: A Paradigm Shift to Reduce Overtreatment of Indolent Tumors.
Thyroid tumors currently diagnosed as noninvasive EFVPTC have a very low risk of adverse outcome and should be termed NIFTP, and this reclassification will affect a large population of patients worldwide and result in a significant reduction in psychological and clinical consequences associated with the diagnosis of cancer. Expand
Gain of Function of a p53 Hot Spot Mutation in a Mouse Model of Li-Fraumeni Syndrome
In vivo validation for the gain-of-function properties of certain p53 missense mutations are provided and a mechanistic basis for these phenotypes is suggested. Expand
WHO classification of head and neck tumours
Comprehensive genomic characterization of head and neck squamous cell carcinomas
It is shown that human-papillomavirus-associated tumours are dominated by helical domain mutations of the oncogene PIK3CA, novel alterations involving loss of TRAF3, and amplification of the cell cycle gene E2F1. Expand
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
- E. Papaemmanuil, M. Cazzola, +45 authors P. Campbell
- The New England journal of medicine
- 12 October 2011
Mutations in SF3B1 implicate abnormalities of messenger RNA splicing in the pathogenesis of myelodysplastic syndromes and were associated with down-regulation of key gene networks, including core mitochondrial pathways. Expand
Integrated Genomic Characterization of Papillary Thyroid Carcinoma
The genomic landscape of 496 PTCs is described and a reclassification of thyroid cancers into molecular subtypes that better reflect their underlying signaling and differentiation properties is proposed, which has the potential to improve their pathological classification and better inform the management of the disease. Expand
Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers.
Although genomic alterations are dominated by loss of tumor suppressor genes, 80% of patients harbored at least one genomic alteration in a targetable gene, suggesting that novel approaches to treatment may be possible for this debilitating subset of head and neck cancers. Expand
Overexpression of podoplanin in oral cancer and its association with poor clinical outcome
The role of podoplanin in head and neck squamous cell carcinoma (HNSCC) is determined to be a mucin‐like glycoprotein that is important in lymphangiogenesis but not blood vessel formation. Expand
Genetic Alterations and Their Relationship in the Phosphatidylinositol 3-Kinase/Akt Pathway in Thyroid Cancer
The data provide strong genetic implication that aberrant activation of PI3K/Akt pathway plays an extensive role in thyroid tumorigenesis, particularly in FTC and ATC, and promotes progression of BTA to FTC and to ATC as the genetic alterations of this pathway accumulate. Expand