The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing

@article{Vater2015TheMP,
  title={The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing},
  author={Inga Vater and Manuel Montesinos-Rongen and Matthias Schlesner and Andrea Haake and Frauke Gina Purschke and Rosanne Sprute and N Mettenmeyer and I Nazzal and Inga Nagel and Jana Gutwein and J Richter and Ivo Buchhalter and Robert B. Russell and Otmar Dieter Wiestler and Roland Eils and Martina Deckert and Reiner Siebert},
  journal={Leukemia},
  year={2015},
  volume={29},
  pages={677-685}
}
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… CONTINUE READING
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