% 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{Chudasama:131775,
      author       = {P. Chudasama$^*$ and S. S. Mughal$^*$ and M. A. Sanders and
                      D. Hübschmann$^*$ and I. Chung$^*$ and K. Deeg$^*$ and
                      S.-H. Wong$^*$ and S. Rabe$^*$ and M. Hlevnjak$^*$ and M.
                      Zapatka and A. Ernst$^*$ and K. Kleinheinz and M. Schlesner
                      and L. Sieverling$^*$ and B. Klink and E. Schröck$^*$ and
                      R. M. Hoogenboezem and B. Kasper and C. E. Heilig and G.
                      Egerer and S. Wolf$^*$ and C. von Kalle$^*$ and R. Eils$^*$
                      and A. Stenzinger$^*$ and W. Weichert$^*$ and H. Glimm$^*$
                      and S. Gröschel$^*$ and H.-G. Kopp and G. Omlor and B.
                      Lehner and S. Bauer$^*$ and S. Schimmack and A. Ulrich and
                      G. Mechtersheimer and K. Rippe and B. Brors and B. Hutter
                      and M. Renner and P. Hohenberger and C. Scholl$^*$ and S.
                      Fröhling$^*$},
      title        = {{I}ntegrative genomic and transcriptomic analysis of
                      leiomyosarcoma.},
      journal      = {Nature Communications},
      volume       = {9},
      number       = {1},
      issn         = {2041-1723},
      address      = {London},
      publisher    = {Nature Publishing Group},
      reportid     = {DKFZ-2018-00072},
      pages        = {144},
      year         = {2018},
      abstract     = {Leiomyosarcoma (LMS) is an aggressive mesenchymal
                      malignancy with few therapeutic options. The mechanisms
                      underlying LMS development, including clinically actionable
                      genetic vulnerabilities, are largely unknown. Here we show,
                      using whole-exome and transcriptome sequencing, that LMS
                      tumors are characterized by substantial mutational
                      heterogeneity, near-universal inactivation of TP53 and RB1,
                      widespread DNA copy number alterations including
                      chromothripsis, and frequent whole-genome duplication.
                      Furthermore, we detect alternative telomere lengthening in
                      $78\%$ of cases and identify recurrent alterations in
                      telomere maintenance genes such as ATRX, RBL2, and SP100,
                      providing insight into the genetic basis of this mechanism.
                      Finally, most tumors display hallmarks of 'BRCAness',
                      including alterations in homologous recombination DNA repair
                      genes, multiple structural rearrangements, and enrichment of
                      specific mutational signatures, and cultured LMS cells are
                      sensitive towards olaparib and cisplatin. This comprehensive
                      study of LMS genomics has uncovered key biological features
                      that may inform future experimental research and enable the
                      design of novel therapies.},
      cin          = {G100 / G200 / B080 / B240 / B060 / L101 / L301 / W190 /
                      G240 / L701 / G250 / L801 / L401 / G102},
      ddc          = {500},
      cid          = {I:(DE-He78)G100-20160331 / I:(DE-He78)G200-20160331 /
                      I:(DE-He78)B080-20160331 / I:(DE-He78)B240-20160331 /
                      I:(DE-He78)B060-20160331 / I:(DE-He78)L101-20160331 /
                      I:(DE-He78)L301-20160331 / I:(DE-He78)W190-20160331 /
                      I:(DE-He78)G240-20160331 / I:(DE-He78)L701-20160331 /
                      I:(DE-He78)G250-20160331 / I:(DE-He78)L801-20160331 /
                      I:(DE-He78)L401-20160331 / I:(DE-He78)G102-20160331},
      pnm          = {317 - Translational cancer research (POF3-317)},
      pid          = {G:(DE-HGF)POF3-317},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29321523},
      pmc          = {pmc:PMC5762758},
      doi          = {10.1038/s41467-017-02602-0},
      url          = {https://inrepo02.dkfz.de/record/131775},
}