Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
- N. Agrawal, M. Frederick, J. Myers
- Medicine, BiologyScience
- 26 August 2011
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.
Nomenclature Revision for Encapsulated Follicular Variant of Papillary Thyroid Carcinoma: A Paradigm Shift to Reduce Overtreatment of Indolent Tumors.
- Y. Nikiforov, R. Seethala, R. Ghossein
- Medicine, BiologyJAMA Oncology
- 1 August 2016
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.
Comprehensive genomic characterization of head and neck squamous cell carcinomas
- M. Lawrence, C. Sougnez, M. Pham
- Biology, MedicineNature
- 28 January 2015
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.
WHO classification of head and neck tumours
- A. El-Naggar, J. Chan, J. Grandis, 高田 隆, P. Slootweg
- Medicine
- 2017
Gain of Function of a p53 Hot Spot Mutation in a Mouse Model of Li-Fraumeni Syndrome
- G. Lang, T. Iwakuma, G. Lozano
- BiologyCell
- 17 December 2004
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
- E. Papaemmanuil, M. Cazzola, P. Campbell
- Medicine, BiologyNew 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.
Integrated Genomic Characterization of Papillary Thyroid Carcinoma
- N. Agrawal, R. Akbani, L. Zou
- Medicine, BiologyCell
- 23 October 2014
Highly prevalent TERT promoter mutations in aggressive thyroid cancers.
- Xiaoli Liu, J. Bishop, M. Xing
- Biology, MedicineEndocrine-Related Cancer
- 1 August 2013
For the first time, to the authors' knowledge, TERT promoter mutations in thyroid cancers are demonstrated, that are particularly prevalent in the aggressive thyroid cancers TCPTC, PDTC, ATC and BRAF mutation-positive PTC, revealing a novel genetic background for thyroid cancers.
A common classification framework for neuroendocrine neoplasms: an International Agency for Research on Cancer (IARC) and World Health Organization (WHO) expert consensus proposal
- G. Rindi, D. Klimstra, I. Cree
- MedicineModern Pathology
- 23 August 2018
This work believes this conceptual approach can form the basis for the next generation of NEN classifications and will allow more consistent taxonomy to understand how neoplasms from different organ systems inter-relate clinically and genetically.
Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers.
- C. Pickering, Jiexin Zhang, M. Frederick
- Biology, MedicineCancer Discovery
- 1 July 2013
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.
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