% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Wegert:127763,
      author       = {J. Wegert and N. Ishaque$^*$ and R. Vardapour and C. Geörg
                      and Z. Gu$^*$ and M. Bieg$^*$ and B. Ziegler and S.
                      Bausenwein and N. Nourkami and N. Ludwig and A. Keller and
                      C. Grimm and S. Kneitz and R. D. Williams and T. Chagtai and
                      K. Pritchard-Jones and P. van Sluis and R. Volckmann and J.
                      Koster and R. Versteeg and T. Acha and M. J. O'Sullivan and
                      P. K. Bode and F. Niggli and G. A. Tytgat and H. van
                      Tinteren and M. M. van den Heuvel-Eibrink and E. Meese and
                      C. Vokuhl and I. Leuschner and N. Graf and R. Eils$^*$ and
                      S. Pfister$^*$ and M. Kool$^*$ and M. Gessler},
      title        = {{M}utations in the {SIX}1/2 pathway and the
                      {DROSHA}/{DGCR}8 mi{RNA} microprocessor complex underlie
                      high-risk blastemal type {W}ilms tumors.},
      journal      = {Cancer cell},
      volume       = {27},
      number       = {2},
      issn         = {1535-6108},
      address      = {Cambridge, Mass.},
      publisher    = {Cell Press},
      reportid     = {DKFZ-2017-03785},
      pages        = {298 - 311},
      year         = {2015},
      abstract     = {Blastemal histology in chemotherapy-treated pediatric Wilms
                      tumors (nephroblastoma) is associated with adverse
                      prognosis. To uncover the underlying tumor biology and find
                      therapeutic leads for this subgroup, we analyzed 58
                      blastemal type Wilms tumors by exome and transcriptome
                      sequencing and validated our findings in a large replication
                      cohort. Recurrent mutations included a hotspot mutation
                      (Q177R) in the homeo-domain of SIX1 and SIX2 in tumors with
                      high proliferative potential $(18.1\%$ of blastemal cases);
                      mutations in the DROSHA/DGCR8 microprocessor genes $(18.2\%$
                      of blastemal cases); mutations in DICER1 and DIS3L2; and
                      alterations in IGF2, MYCN, and TP53, the latter being
                      strongly associated with dismal outcome. DROSHA and DGCR8
                      mutations strongly altered miRNA expression patterns in
                      tumors, which was functionally validated in cell lines
                      expressing mutant DROSHA.},
      keywords     = {DGCR8 protein, human (NLM Chemicals) / Homeodomain Proteins
                      (NLM Chemicals) / MicroRNAs (NLM Chemicals) / Neoplasm
                      Proteins (NLM Chemicals) / Nerve Tissue Proteins (NLM
                      Chemicals) / RNA-Binding Proteins (NLM Chemicals) / SIX1
                      protein, human (NLM Chemicals) / SIX2 protein, human (NLM
                      Chemicals) / DROSHA protein, human (NLM Chemicals) /
                      Ribonuclease III (NLM Chemicals)},
      cin          = {B080 / B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B080-20160331 / 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:25670083},
      doi          = {10.1016/j.ccell.2015.01.002},
      url          = {https://inrepo02.dkfz.de/record/127763},
}