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@ARTICLE{Lambo:148322,
      author       = {S. Lambo$^*$ and S. Gröbner$^*$ and T. Rausch and S. M.
                      Waszak and C. Schmidt and A. Gorthi and J. C. Romero and M.
                      Mauermann$^*$ and S. Brabetz$^*$ and S. Krausert$^*$ and I.
                      Buchhalter$^*$ and J. Koster and D. A. Zwijnenburg and M.
                      Sill$^*$ and J.-M. Hübner$^*$ and N. Mack$^*$ and B.
                      Schwalm$^*$ and M. Ryzhova and V. Hovestadt$^*$ and S.
                      Papillon-Cavanagh and J. A. Chan and P. Landgraf and B. Ho
                      and T. Milde$^*$ and O. Witt$^*$ and J. Ecker$^*$ and F.
                      Sahm$^*$ and D. Sumerauer and D. W. Ellison and B. A. Orr
                      and A. Darabi and C. Haberler and D. Figarella-Branger and
                      P. Wesseling and J. Schittenhelm and M. Remke$^*$ and M. D.
                      Taylor and M. J. Gil-da-Costa and M. Łastowska and W.
                      Grajkowska and M. Hasselblatt and P. Hauser and T. Pietsch
                      and E. Uro-Coste and F. Bourdeaut and J. Masliah-Planchon
                      and V. Rigau and S. Alexandrescu and S. Wolf$^*$ and X.-N.
                      Li and U. Schüller and M. Snuderl and M. A. Karajannis and
                      F. Giangaspero and N. Jabado and A. von Deimling$^*$ and D.
                      T. W. Jones$^*$ and J. O. Korbel and K. von Hoff and P.
                      Lichter$^*$ and A. Huang and A. J. R. Bishop and S. M.
                      Pfister$^*$ and A. Korshunov$^*$ and M. Kool$^*$},
      title        = {{T}he molecular landscape of {ETMR} at diagnosis and
                      relapse.},
      journal      = {Nature},
      volume       = {576},
      number       = {7786},
      issn         = {1476-4687},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group52462},
      reportid     = {DKFZ-2019-02880},
      pages        = {274-280},
      year         = {2019},
      note         = {#EA:B062#LA:B062#2019 Dec;576(7786):274-280},
      abstract     = {Embryonal tumours with multilayered rosettes (ETMRs) are
                      aggressive paediatric embryonal brain tumours with a
                      universally poor prognosis1. Here we collected 193 primary
                      ETMRs and 23 matched relapse samples to investigate the
                      genomic landscape of this distinct tumour type. We found
                      that patients with tumours in which the proposed driver
                      C19MC2-4 was not amplified frequently had germline mutations
                      in DICER1 or other microRNA-related aberrations such as
                      somatic amplification of miR-17-92 (also known as MIR17HG).
                      Whole-genome sequencing revealed that tumours had an overall
                      low recurrence of single-nucleotide variants (SNVs), but
                      showed prevalent genomic instability caused by widespread
                      occurrence of R-loop structures. We show that
                      R-loop-associated chromosomal instability can be induced by
                      the loss of DICER1 function. Comparison of primary tumours
                      and matched relapse samples showed a strong conservation of
                      structural variants, but low conservation of SNVs. Moreover,
                      many newly acquired SNVs are associated with a mutational
                      signature related to cisplatin treatment. Finally, we show
                      that targeting R-loops with topoisomerase and PARP
                      inhibitors might be an effective treatment strategy for this
                      deadly disease.},
      cin          = {B062 / L101 / W610 / B060 / B310 / B300 / W190 / B360},
      ddc          = {500},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)W610-20160331 / I:(DE-He78)B060-20160331 /
                      I:(DE-He78)B310-20160331 / I:(DE-He78)B300-20160331 /
                      I:(DE-He78)W190-20160331 / I:(DE-He78)B360-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31802000},
      doi          = {10.1038/s41586-019-1815-x},
      url          = {https://inrepo02.dkfz.de/record/148322},
}