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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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
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19 April 2020
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| 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 
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| Verfasserangaben: | P.D. Johann |
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| 520 | |a 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. | ||
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