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000154561 1001_ $$00000-0002-8857-6148$$aJohann, P. D.$$b0$$eLast author
000154561 245__ $$aInvited Review: Dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond.
000154561 260__ $$aOxford [u.a.]$$bWiley-Blackwell$$c2020
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000154561 520__ $$aMutations in chromatin remodelling genes occur in approximately 25% of all human tumours (Kadoch et al. Nat Genet 45: 592-601, 2013). The spectrum of alterations is broad and comprises single nucleotide variants, insertion/deletions and more complex structural variations. The single most often affected remodelling complex is the SWI/SNF complex (SWItch/sucrose non-fermentable). In the field of paediatric neuro-oncology, the spectrum of affected genes implicated in epigenetic remodelling is narrower with SMARCB1 and SMARCA4 being the most frequent. The low mutation frequencies in many of the SWI/SNF mutant entities underline the fact that perturbed chromatin remodelling is the most salient factor in tumourigenesis and could thus be a potential therapeutic opportunity. Here, I review the genetic basis of aberrant chromatin remodelling in paediatric brain tumours and discuss their impact on the epigenome in the respective entities, mainly medulloblastomas and rhabdoid tumours.
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000154561 773__ $$0PERI:(DE-600)2008293-9$$a10.1111/nan.12616$$gVol. 46, no. 1, p. 57 - 72$$n1$$p57 - 72$$tNeuropathology & applied neurobiology$$v46$$x1365-2990$$y2020
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