An Integrated Genomic Analysis of Human Glioblastoma Multiforme
- D. W. Parsons, Siân Jones, K. Kinzler
- BiologyScience
- 26 September 2008
Recurrent mutations in the active site of isocitrate dehydrogenase 1 (IDH1) occurred in a large fraction of young patients and in most patients with secondary GBMs and were associated with an increase in overall survival.
High Frequency of Mutations of the PIK3CA Gene in Human Cancers
- Y. Samuels, Zhenghe Wang, V. Velculescu
- BiologyScience
- 23 April 2004
To determine if PI3Ks are genetically altered in tumorigenesis, they were sequenced in human for the first time and the results allowed us to assess the importance of phosphatidylinositol 3-kinases in neoplasia.
IDH1 and IDH2 mutations in gliomas.
- Hai Yan, D. W. Parsons, D. Bigner
- Medicine, BiologyNew England Journal of Medicine
- 10 December 2009
Mutations of NADP(+)-dependent isocitrate dehydrogenases encoded by IDH1 and IDH2 occur in a majority of several types of malignant gliomas.
Altered Telomeres in Tumors with ATRX and DAXX Mutations
- C. Heaphy, R. D. de Wilde, A. Meeker
- Biology, MedicineScience
- 22 July 2011
The data suggest that an alternative telomere maintenance function may operate in human tumors with alterations in the ATRX or DAXX genes, which are common in human pancreatic neuroendocrine tumors.
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
- P. Killela, Z. Reitman, Hai Yan
- Biology, MedicineProceedings of the National Academy of Sciences
- 25 March 2013
TERT and ATRX mutations were mutually exclusive, suggesting that these two genetic mechanisms confer equivalent selective growth advantages and provide a biomarker that may be useful for the early detection of urinary tract and liver tumors and aid in the classification and prognostication of brain tumors.
Transformation by the R Enantiomer of 2-Hydroxyglutarate Linked to EglN Activation
- P. Koivunen, Sungwoo Lee, W. Kaelin
- BiologyNature
- 15 February 2012
Findings define an enantiomer-specific mechanism by which the (R)-2HG that accumulates in IDH mutant brain tumours promotes transformation and provide a justification for exploring EGLN inhibition as a potential treatment strategy.
Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas
- Y. Jiao, P. Killela, Hai Yan
- Medicine, BiologyOncoTarget
- 1 July 2012
The genetic signatures distinguished clinically distinct groups of oligoastrocytoma patients, which usually present a diagnostic challenge, and were associated with differences in clinical outcome even among individual tumor types.
The integrated landscape of driver genomic alterations in glioblastoma
- V. Frattini, V. Trifonov, A. Iavarone
- BiologyNature Genetics
- 5 August 2013
A computational platform that integrates the analysis of copy number variations and somatic mutations and unravels the landscape of in-frame gene fusions in glioblastoma provides insights into the pathogenesis of gliOBlastoma and highlights new targets for therapeutic intervention.
Profiling the effects of isocitrate dehydrogenase 1 and 2 mutations on the cellular metabolome
- Z. Reitman, Geng-lin Jin, Hai Yan
- Biology, MedicineProceedings of the National Academy of Sciences
- 2 February 2011
Low levels of N-acetyl-aspartyl-glutamate, a common dipeptide in brain, was significantly lower in human glioma tissues containing IDH mutations than in gliomas without such mutations, and metabolic changes provide clues to the pathogenesis of tumors associated with IDH gene mutations.
Mutational Analysis of the Tyrosine Phosphatome in Colorectal Cancers
- Zhenghe Wang, D. Shen, V. Velculescu
- BiologyScience
- 21 May 2004
Observations suggest that the mutated tyrosine phosphatases are tumor suppressor genes, regulating cellular pathways that may be amenable to therapeutic intervention.
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