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| 005 | 20240228140944.0 | ||
| 024 | 7 | _ | |a 10.1038/leu.2014.264 |2 doi |
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| 100 | 1 | _ | |a Vater, I. |b 0 |
| 245 | _ | _ | |a The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing. |
| 260 | _ | _ | |a Basingstoke |c 2015 |b Nature Publ. Group |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1508915534_17554 |2 PUB:(DE-HGF) |
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| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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. |
| 536 | _ | _ | |a 312 - Functional and structural genomics (POF3-312) |0 G:(DE-HGF)POF3-312 |c POF3-312 |f POF III |x 0 |
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| 650 | _ | 7 | |a CSMD2 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a CSMD3 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Immunoglobulin Heavy Chains |2 NLM Chemicals |
| 650 | _ | 7 | |a Membrane Glycoproteins |2 NLM Chemicals |
| 650 | _ | 7 | |a Membrane Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a Receptors, Steroid |2 NLM Chemicals |
| 650 | _ | 7 | |a SUSD2 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a oxysterol binding protein |2 NLM Chemicals |
| 650 | _ | 7 | |a teneurin-4 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a PIM1 protein, human |0 EC 2.7.11.1 |2 NLM Chemicals |
| 650 | _ | 7 | |a Proto-Oncogene Proteins c-pim-1 |0 EC 2.7.11.1 |2 NLM Chemicals |
| 650 | _ | 7 | |a PTPRD protein, human |0 EC 3.1.3.48 |2 NLM Chemicals |
| 650 | _ | 7 | |a Receptor-Like Protein Tyrosine Phosphatases, Class 2 |0 EC 3.1.3.48 |2 NLM Chemicals |
| 700 | 1 | _ | |a Montesinos-Rongen, M. |b 1 |
| 700 | 1 | _ | |a Schlesner, M. |0 P:(DE-He78)f2a782242acf94a3114d75c45dc75b37 |b 2 |u dkfz |
| 700 | 1 | _ | |a Haake, A. |b 3 |
| 700 | 1 | _ | |a Purschke, F. |b 4 |
| 700 | 1 | _ | |a Sprute, R. |b 5 |
| 700 | 1 | _ | |a Mettenmeyer, N. |b 6 |
| 700 | 1 | _ | |a Nazzal, I. |b 7 |
| 700 | 1 | _ | |a Nagel, I. |b 8 |
| 700 | 1 | _ | |a Gutwein, J. |b 9 |
| 700 | 1 | _ | |a Richter, J. |b 10 |
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| 700 | 1 | _ | |a Russell, R. B. |b 12 |
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| 700 | 1 | _ | |a Eils, R. |0 P:(DE-He78)78b6aa82148e60b4d91e3a37a6d3d9a0 |b 14 |u dkfz |
| 700 | 1 | _ | |a Deckert, M. |b 15 |
| 700 | 1 | _ | |a Siebert, R. |b 16 |
| 773 | _ | _ | |a 10.1038/leu.2014.264 |g Vol. 29, no. 3, p. 677 - 685 |0 PERI:(DE-600)2008023-2 |n 3 |p 677 - 685 |t Leukemia |v 29 |y 2015 |x 1476-5551 |
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