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@ARTICLE{Williams:127794,
      author       = {R. D. Williams and T. Chagtai and M. Alcaide-German and J.
                      Apps and J. Wegert and S. Popov and G. Vujanic and H. van
                      Tinteren and M. M. van den Heuvel-Eibrink and M. Kool$^*$
                      and J. de Kraker and D. Gisselsson and N. Graf and M.
                      Gessler and K. Pritchard-Jones},
      title        = {{M}ultiple mechanisms of {MYCN} dysregulation in {W}ilms
                      tumour.},
      journal      = {OncoTarget},
      volume       = {6},
      number       = {9},
      issn         = {1949-2553},
      address      = {[S.l.]},
      publisher    = {Impact Journals LLC},
      reportid     = {DKFZ-2017-03816},
      pages        = {7232 - 7243},
      year         = {2015},
      abstract     = {Genomic gain of the proto-oncogene transcription factor
                      gene MYCN is associated with poor prognosis in several
                      childhood cancers. Here we present a comprehensive copy
                      number analysis of MYCN in Wilms tumour (WT), demonstrating
                      that gain of this gene is associated with anaplasia and with
                      poorer relapse-free and overall survival, independent of
                      histology. Using whole exome and gene-specific sequencing,
                      together with methylation and expression profiling, we show
                      that MYCN is targeted by other mechanisms, including a
                      recurrent somatic mutation, P44L, and specific DNA
                      hypomethylation events associated with MYCN overexpression
                      in tumours with high risk histologies. We describe parallel
                      evolution of genomic copy number gain and point mutation of
                      MYCN in the contralateral tumours of a remarkable bilateral
                      case in which independent contralateral mutations of TP53
                      also evolve over time. We report a second bilateral case in
                      which MYCN gain is a germline aberration. Our results
                      suggest a significant role for MYCN dysregulation in the
                      molecular biology of Wilms tumour. We conclude that MYCN
                      gain is prognostically significant, and suggest that the
                      novel P44L somatic variant is likely to be an activating
                      mutation.},
      keywords     = {Proto-Oncogene Proteins c-myc (NLM Chemicals) / TP53
                      protein, human (NLM Chemicals) / Tumor Suppressor Protein
                      p53 (NLM Chemicals)},
      cin          = {B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25749049},
      pmc          = {pmc:PMC4466681},
      doi          = {10.18632/oncotarget.3377},
      url          = {https://inrepo02.dkfz.de/record/127794},
}