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@ARTICLE{Vater:127695,
      author       = {I. Vater and M. Montesinos-Rongen and M. Schlesner$^*$ and
                      A. Haake and F. Purschke and R. Sprute and N. Mettenmeyer
                      and I. Nazzal and I. Nagel and J. Gutwein and J. Richter and
                      I. Buchhalter$^*$ and R. B. Russell and O. Wiestler$^*$ and
                      R. Eils$^*$ and M. Deckert and R. Siebert},
      title        = {{T}he mutational pattern of primary lymphoma of the central
                      nervous system determined by whole-exome sequencing.},
      journal      = {Leukemia},
      volume       = {29},
      number       = {3},
      issn         = {1476-5551},
      address      = {Basingstoke},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2017-03718},
      pages        = {677 - 685},
      year         = {2015},
      abstract     = {To decipher the mutational pattern of primary CNS lymphoma
                      (PCNSL), we performed whole-exome sequencing to a median
                      coverage of 103 × followed by mutation verification in 9
                      PCNSL and validation using Sanger sequencing in 22 PCNSL. We
                      identified a median of 202 (range: 139-251) potentially
                      somatic single nucleotide variants (SNV) and 14 small indels
                      (range: 7-22) with potentially protein-changing features per
                      PCNSL. Mutations affected the B-cell receptor, toll-like
                      receptor, and NF-κB and genes involved in chromatin
                      structure and modifications, cell-cycle regulation, and
                      immune recognition. A median of $22.2\%$ (range:
                      $20.0-24.7\%)$ of somatic SNVs in 9 PCNSL overlaps with the
                      RGYW motif targeted by somatic hypermutation (SHM); a median
                      of $7.9\%$ (range: $6.2-12.6\%)$ affects its hotspot
                      position suggesting a major impact of SHM on PCNSL
                      pathogenesis. In addition to the well-known targets of
                      aberrant SHM (aSHM) (PIM1), our data suggest new targets of
                      aSHM (KLHL14, OSBPL10, and SUSD2). Among the four most
                      frequently mutated genes was ODZ4 showing protein-changing
                      mutations in 4/9 PCNSL. Together with mutations affecting
                      CSMD2, CSMD3, and PTPRD, these findings may suggest that
                      alterations in genes having a role in CNS development may
                      facilitate diffuse large B-cell lymphoma manifestation in
                      the CNS. This may point to intriguing mechanisms of CNS
                      tropism in PCNSL.},
      keywords     = {CSMD2 protein, human (NLM Chemicals) / CSMD3 protein, human
                      (NLM Chemicals) / Immunoglobulin Heavy Chains (NLM
                      Chemicals) / Membrane Glycoproteins (NLM Chemicals) /
                      Membrane Proteins (NLM Chemicals) / Receptors, Steroid (NLM
                      Chemicals) / SUSD2 protein, human (NLM Chemicals) /
                      oxysterol binding protein (NLM Chemicals) / teneurin-4
                      protein, human (NLM Chemicals) / PIM1 protein, human (NLM
                      Chemicals) / Proto-Oncogene Proteins c-pim-1 (NLM Chemicals)
                      / PTPRD protein, human (NLM Chemicals) / Receptor-Like
                      Protein Tyrosine Phosphatases, Class 2 (NLM Chemicals)},
      cin          = {B080 / M010},
      ddc          = {610},
      cid          = {I:(DE-He78)B080-20160331 / I:(DE-He78)M010-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25189415},
      doi          = {10.1038/leu.2014.264},
      url          = {https://inrepo02.dkfz.de/record/127695},
}