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Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
The presence of H3F3A/ATRX-DAXX/TP53 mutations was strongly associated with alternative lengthening of telomeres and specific gene expression profiles, suggesting that defects of the chromatin architecture underlie paediatric and young adult GBM pathogenesis.
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
This work integrated whole-genome sequencing with methylation, expression and copy number profiling, discovering that DIPGs comprise three molecularly distinct subgroups (H3-K27M, silent and MYCN) and uncovering a new recurrent activating mutation affecting the activin receptor gene ACVR1 in 20% of DIPG.
Epigenomic alterations define lethal CIMP-positive ependymomas of infancy
It is concluded that epigenetic modifiers are the first rational therapeutic candidates for this deadly malignancy, which is epigenetically deregulated but genetically bland.
Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma.
- N. Zhukova, V. Ramaswamy, U. Tabori
- MedicineJournal of clinical oncology : official journal…
- 10 August 2013
Subgroup-specific analysis reconciles prior conflicting publications and confirms that TP53 mutations are enriched among SHH medulloblastomas, in which they portend poor outcome and account for a large proportion of treatment failures in these patients.
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study.
BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma.
- M. Mistry, N. Zhukova, U. Tabori
- Medicine, BiologyJournal of clinical oncology : official journal…
- 20 March 2015
The prolonged course to transformation for BRAF V600E PLGGs provides an opportunity for surgical interventions, surveillance, and targeted therapies to mitigate the outcome of sHGG.
DNA hypermethylation within TERT promoter upregulates TERT expression in cancer
It is proposed that THORhypermethylation is a prevalent telomerase-activating mechanism in cancer that can act independently of or in conjunction with TPMs, further supporting the utility of THOR hypermethylation as a prognostic biomarker.
Polypyrimidine Tract Binding Protein Modulates Efficiency of Polyadenylation
- P. Castelo-Branco, A. Furger, M. Wollerton, C. Smith, Alexandra Moreira, N. Proudfoot
- Biology, Computer ScienceMolecular and Cellular Biology
- 15 May 2004
It is shown that a fourfold overexpression of PTB results in a 75% reduction of mRNA levels produced from transfected gene constructs with different polyadenylation signals (pA signals).
Alternative lengthening of telomeres is enriched in, and impacts survival of TP53 mutant pediatric malignant brain tumors
The presence of ALT is limited to a specific group of childhood brain cancers which harbor somatic TP53 mutations and may influence the outcome of these patients, which may contribute to risk stratification and targeted therapies to improve outcome for these children.
Cancer Stem Cells in Prostate Cancer: Implications for Targeted Therapy
- R. Leão, Célia Domingos, A. Figueiredo, R. Hamilton, U. Tabori, P. Castelo-Branco
- Biology, MedicineUrologia Internationalis
- 1 February 2017
Therapies targeting CSCs might lead to more effective cancer treatments, divergent from a traditional anti-proliferative approach, based on tumor bulk reduction accompanied by CSC-specific inhibition.