TY  - JOUR
AU  - Vater, I.
AU  - Montesinos-Rongen, M.
AU  - Schlesner, M.
AU  - Haake, A.
AU  - Purschke, F.
AU  - Sprute, R.
AU  - Mettenmeyer, N.
AU  - Nazzal, I.
AU  - Nagel, I.
AU  - Gutwein, J.
AU  - Richter, J.
AU  - Buchhalter, I.
AU  - Russell, R. B.
AU  - Wiestler, Otmar
AU  - Eils, R.
AU  - Deckert, M.
AU  - Siebert, R.
TI  - The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing.
JO  - Leukemia
VL  - 29
IS  - 3
SN  - 1476-5551
CY  - Basingstoke
PB  - Nature Publ. Group
M1  - DKFZ-2017-03718
SP  - 677 - 685
PY  - 2015
AB  - 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
KW  - CSMD2 protein, human (NLM Chemicals)
KW  - CSMD3 protein, human (NLM Chemicals)
KW  - Immunoglobulin Heavy Chains (NLM Chemicals)
KW  - Membrane Glycoproteins (NLM Chemicals)
KW  - Membrane Proteins (NLM Chemicals)
KW  - Receptors, Steroid (NLM Chemicals)
KW  - SUSD2 protein, human (NLM Chemicals)
KW  - oxysterol binding protein (NLM Chemicals)
KW  - teneurin-4 protein, human (NLM Chemicals)
KW  - PIM1 protein, human (NLM Chemicals)
KW  - Proto-Oncogene Proteins c-pim-1 (NLM Chemicals)
KW  - PTPRD protein, human (NLM Chemicals)
KW  - Receptor-Like Protein Tyrosine Phosphatases, Class 2 (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:25189415
DO  - DOI:10.1038/leu.2014.264
UR  - https://inrepo02.dkfz.de/record/127695
ER  -