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Invited review: dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond

Mutations in chromatin remodelling genes occur in approximately 25% of all human tumours (Kadoch et al. Nat Genet 45: 592-601, 2013). The spectrum of alterations is broad and comprises single nucleotide variants, insertion/deletions and more complex structural variations. The single most often affec...

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1. Verfasser: Johann, Pascal-David (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 19 April 2020
In: Neuropathology & applied neurobiology
Year: 2020, Jahrgang: 46, Heft: 1, Pages: 57-72
ISSN:1365-2990
DOI:https://doi.org/10.1111/nan.12616
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/https://doi.org/10.1111/nan.12616
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/nan.12616
Volltext
Verfasserangaben:P.D. Johann
Beschreibung
Zusammenfassung:Mutations in chromatin remodelling genes occur in approximately 25% of all human tumours (Kadoch et al. Nat Genet 45: 592-601, 2013). The spectrum of alterations is broad and comprises single nucleotide variants, insertion/deletions and more complex structural variations. The single most often affected remodelling complex is the SWI/SNF complex (SWItch/sucrose non-fermentable). In the field of paediatric neuro-oncology, the spectrum of affected genes implicated in epigenetic remodelling is narrower with SMARCB1 and SMARCA4 being the most frequent. The low mutation frequencies in many of the SWI/SNF mutant entities underline the fact that perturbed chromatin remodelling is the most salient factor in tumourigenesis and could thus be a potential therapeutic opportunity. Here, I review the genetic basis of aberrant chromatin remodelling in paediatric brain tumours and discuss their impact on the epigenome in the respective entities, mainly medulloblastomas and rhabdoid tumours.
Beschreibung:Gesehen am 07.01.2021
Beschreibung:Online Resource
ISSN:1365-2990
DOI:https://doi.org/10.1111/nan.12616

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