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@ARTICLE{Johann:154561,
      author       = {P. D. Johann$^*$},
      title        = {{I}nvited {R}eview: {D}ysregulation of chromatin
                      remodellers in paediatric brain tumours - {SMARCB}1 and
                      beyond.},
      journal      = {Neuropathology $\&$ applied neurobiology},
      volume       = {46},
      number       = {1},
      issn         = {1365-2990},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2020-00856},
      pages        = {57 - 72},
      year         = {2020},
      note         = {#LA:B062#Invited Review},
      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.},
      subtyp        = {Review Article},
      cin          = {B062 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32307752},
      doi          = {10.1111/nan.12616},
      url          = {https://inrepo02.dkfz.de/record/154561},
}