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| Home > Publications database > Invited Review: Dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond. > print |
| 001 | 154561 | ||
| 005 | 20240229123106.0 | ||
| 024 | 7 | _ | |a 10.1111/nan.12616 |2 doi |
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| 024 | 7 | _ | |a 0305-1846 |2 ISSN |
| 024 | 7 | _ | |a 1365-2990 |2 ISSN |
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| 037 | _ | _ | |a DKFZ-2020-00856 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Johann, P. D. |0 0000-0002-8857-6148 |b 0 |e Last author |
| 245 | _ | _ | |a Invited Review: Dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond. |
| 260 | _ | _ | |a Oxford [u.a.] |c 2020 |b Wiley-Blackwell |
| 336 | 7 | _ | |a article |2 DRIVER |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a #LA:B062#Invited Review |
| 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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| 773 | _ | _ | |a 10.1111/nan.12616 |g Vol. 46, no. 1, p. 57 - 72 |0 PERI:(DE-600)2008293-9 |n 1 |p 57 - 72 |t Neuropathology & applied neurobiology |v 46 |y 2020 |x 1365-2990 |
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