Journal Article (Review Article) DKFZ-2020-00856

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Invited Review: Dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond.



2020
Wiley-Blackwell Oxford [u.a.]

Neuropathology & applied neurobiology 46(1), 57 - 72 () [10.1111/nan.12616]
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Abstract: 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.

Classification:

Note: #LA:B062#Invited Review

Contributing Institute(s):
  1. B062 Pädiatrische Neuroonkologie (B062)
  2. DKTK HD zentral (HD01)
Research Program(s):
  1. 312 - Functional and structural genomics (POF3-312) (POF3-312)

Appears in the scientific report 2020
Database coverage:
Medline ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection
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 Record created 2020-04-21, last modified 2024-02-29



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