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@ARTICLE{Kool:127641,
      author       = {M. Kool$^*$ and D. Jones$^*$ and N. Jäger$^*$ and P. A.
                      Northcott$^*$ and T. J. Pugh and V. Hovestadt$^*$ and R. M.
                      Piro$^*$ and L. A. Esparza and S. L. Markant and M. Remke
                      and T. Milde and F. Bourdeaut and M. Ryzhova and D.
                      Sturm$^*$ and E. Pfaff$^*$ and S. Stark$^*$ and S.
                      Hutter$^*$ and H. Seker-Cin$^*$ and P. Johann$^*$ and S.
                      Bender$^*$ and C. Schmidt$^*$ and T. Rausch and D. Shih and
                      J. Reimand and L. Sieber$^*$ and A. Wittmann$^*$ and L.
                      Linke$^*$ and H. Witt$^*$ and U. Weber$^*$ and M.
                      Zapatka$^*$ and R. König$^*$ and R. Beroukhim and G.
                      Bergthold and P. van Sluis and R. Volckmann and J. Koster
                      and R. Versteeg and S. Schmidt$^*$ and S. Wolf$^*$ and C.
                      Lawerenz$^*$ and C. C. Bartholomae$^*$ and C. von Kalle$^*$
                      and A. Unterberg and C. Herold-Mende and S. Hofer and A. E.
                      Kulozik and A. von Deimling$^*$ and W. Scheurlen and J.
                      Felsberg and G. Reifenberger and M. Hasselblatt and J. R.
                      Crawford and G. A. Grant and N. Jabado and A. Perry and C.
                      Cowdrey and S. Croul and G. Zadeh and J. O. Korbel and F.
                      Doz and O. Delattre and G. D. Bader and M. G. McCabe and V.
                      P. Collins and M. W. Kieran and Y.-J. Cho and S. L. Pomeroy
                      and O. Witt$^*$ and B. Brors$^*$ and M. D. Taylor and U.
                      Schüller and A. Korshunov$^*$ and R. Eils$^*$ and R. J.
                      Wechsler-Reya and P. Lichter$^*$ and S. Pfister$^*$},
      collaboration = {I. P. T. Project},
      title        = {{G}enome sequencing of {SHH} medulloblastoma predicts
                      genotype-related response to smoothened inhibition.},
      journal      = {Cancer cell},
      volume       = {25},
      number       = {3},
      issn         = {1535-6108},
      address      = {Cambridge, Mass.},
      publisher    = {Cell Press},
      reportid     = {DKFZ-2017-03664},
      pages        = {393 - 405},
      year         = {2014},
      abstract     = {Smoothened (SMO) inhibitors recently entered clinical
                      trials for sonic-hedgehog-driven medulloblastoma (SHH-MB).
                      Clinical response is highly variable. To understand the
                      mechanism(s) of primary resistance and identify pathways
                      cooperating with aberrant SHH signaling, we sequenced and
                      profiled a large cohort of SHH-MBs (n = 133). SHH pathway
                      mutations involved PTCH1 (across all age groups), SUFU
                      (infants, including germline), and SMO (adults). Children >3
                      years old harbored an excess of downstream MYCN and GLI2
                      amplifications and frequent TP53 mutations, often in the
                      germline, all of which were rare in infants and adults.
                      Functional assays in different SHH-MB xenograft models
                      demonstrated that SHH-MBs harboring a PTCH1 mutation were
                      responsive to SMO inhibition, whereas tumors harboring an
                      SUFU mutation or MYCN amplification were primarily
                      resistant.},
      keywords     = {Biphenyl Compounds (NLM Chemicals) / GLI2 protein, human
                      (NLM Chemicals) / Hedgehog Proteins (NLM Chemicals) /
                      Kruppel-Like Transcription Factors (NLM Chemicals) / LDE225
                      (NLM Chemicals) / MYCN protein, human (NLM Chemicals) /
                      N-Myc Proto-Oncogene Protein (NLM Chemicals) / Nuclear
                      Proteins (NLM Chemicals) / Oncogene Proteins (NLM Chemicals)
                      / PTCH protein, human (NLM Chemicals) / Patched Receptors
                      (NLM Chemicals) / Patched-1 Receptor (NLM Chemicals) / Ptch1
                      protein, mouse (NLM Chemicals) / Pyridines (NLM Chemicals) /
                      Receptors, Cell Surface (NLM Chemicals) / Receptors,
                      G-Protein-Coupled (NLM Chemicals) / Repressor Proteins (NLM
                      Chemicals) / SHH protein, human (NLM Chemicals) / SMO
                      protein, human (NLM Chemicals) / SUFU protein, human (NLM
                      Chemicals) / Smoothened Receptor (NLM Chemicals) / TP53
                      protein, human (NLM Chemicals) / Tumor Suppressor Protein
                      p53 (NLM Chemicals) / Phosphatidylinositol 3-Kinases (NLM
                      Chemicals) / Proto-Oncogene Proteins c-akt (NLM Chemicals) /
                      TERT protein, human (NLM Chemicals) / Telomerase (NLM
                      Chemicals) / DDX3X protein, human (NLM Chemicals) / DEAD-box
                      RNA Helicases (NLM Chemicals)},
      cin          = {B062 / B080 / B060 / G100 / G380 / G340 / W190},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)B080-20160331 /
                      I:(DE-He78)B060-20160331 / I:(DE-He78)G100-20160331 /
                      I:(DE-He78)G380-20160331 / I:(DE-He78)G340-20160331 /
                      I:(DE-He78)W190-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24651015},
      pmc          = {pmc:PMC4493053},
      doi          = {10.1016/j.ccr.2014.02.004},
      url          = {https://inrepo02.dkfz.de/record/127641},
}