%0 Journal Article
%A Vater, I.
%A Montesinos-Rongen, M.
%A Schlesner, M.
%A Haake, A.
%A Purschke, F.
%A Sprute, R.
%A Mettenmeyer, N.
%A Nazzal, I.
%A Nagel, I.
%A Gutwein, J.
%A Richter, J.
%A Buchhalter, I.
%A Russell, R. B.
%A Wiestler, Otmar
%A Eils, R.
%A Deckert, M.
%A Siebert, R.
%T The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing.
%J Leukemia
%V 29
%N 3
%@ 1476-5551
%C Basingstoke
%I Nature Publ. Group
%M DKFZ-2017-03718
%P 677 - 685
%D 2015
%X 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
%K CSMD2 protein, human (NLM Chemicals)
%K CSMD3 protein, human (NLM Chemicals)
%K Immunoglobulin Heavy Chains (NLM Chemicals)
%K Membrane Glycoproteins (NLM Chemicals)
%K Membrane Proteins (NLM Chemicals)
%K Receptors, Steroid (NLM Chemicals)
%K SUSD2 protein, human (NLM Chemicals)
%K oxysterol binding protein (NLM Chemicals)
%K teneurin-4 protein, human (NLM Chemicals)
%K PIM1 protein, human (NLM Chemicals)
%K Proto-Oncogene Proteins c-pim-1 (NLM Chemicals)
%K PTPRD protein, human (NLM Chemicals)
%K Receptor-Like Protein Tyrosine Phosphatases, Class 2 (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:25189415
%R 10.1038/leu.2014.264
%U https://inrepo02.dkfz.de/record/127695