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Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

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References

  1. Alexandrov LB, Nik-Zainal S, Wedge DC et al (2013) Signatures of mutational processes in human cancer. Nature 500(7463):415–421. doi:10.1038/nature12477

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR (2008) Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 74(4):358–366. doi:10.1111/j.1399-0004.2008.01060.x

    Article  CAS  PubMed  Google Scholar 

  3. Frattini V, Trifonov V, Chan JM et al (2013) The integrated landscape of driver genomic alterations in glioblastoma. Nat Genet 45(10):1141–1149. doi:10.1038/ng.2734

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Hadfield KD, Newman WG, Bowers NL et al (2008) Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet 45(6):332–339. doi:10.1136/jmg.2007.056499

    Article  CAS  PubMed  Google Scholar 

  5. Jacoby LB, Jones D, Davis K et al (1997) Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 61(6):1293–1302. doi:10.1086/301633

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  6. Kaufman DL, Heinrich BS, Willett C et al (2003) Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol 60(9):1317–1320. doi:10.1001/archneur.60.9.1317

    Article  PubMed  Google Scholar 

  7. MacCollin M, Chiocca EA, Evans DG et al (2005) Diagnostic criteria for schwannomatosis. Neurology 64(11):1838–1845. doi:10.1212/01.WNL.0000163982.78900.AD

    Article  CAS  PubMed  Google Scholar 

  8. MacCollin M, Willett C, Heinrich B et al (2003) Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology 60(12):1968–1974

    Article  CAS  PubMed  Google Scholar 

  9. Piotrowski A, Xie J, Liu YF et al (2013) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nature Genet 46(2):182–187. doi:10.1038/ng.2855

    Article  PubMed  Google Scholar 

  10. Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S (2011) SMARCB1/INI1 germline mutations contribute to 10 % of sporadic schwannomatosis. BMC Neurol 11(1):9. doi:10.1186/1471-2377-11-9

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  11. Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L (2008) Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29(2):227–231. doi:10.1002/humu.20679

    Article  CAS  PubMed  Google Scholar 

  12. Smith MJ, Wallace AJ, Bowers NL et al (2012) Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics 13(2):141–145. doi:10.1007/s10048-012-0319-8

    Article  CAS  PubMed  Google Scholar 

  13. Zhang K, Lin JW, Wang J et al (2014) A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. Genet Med Off J Am Coll Med Genet. doi:10.1038/gim.2014.39

    Google Scholar 

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Acknowledgments

For technical support and expertise we thank the High Throughput Sequencing and Microarray Units of the DKFZ Genomics and Proteomics Core Facility. This work was principally supported by the PedBrain Tumor Project contributing to the International Cancer Genome Consortium, funded by German Cancer Aid (DKH, #109252) and by the German Federal Ministry of Education and Research (BMBF, #01KU1201A, MedSys #0315416C and NGFNplus #01GS0883). Additional support came from the German Cancer Research Center—Heidelberg Center for Personalized Oncology (DKFZ-HIPO).

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Correspondence to David T. W. Jones or Victor F. Mautner.

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Hutter, S., Piro, R.M., Reuss, D.E. et al. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol 128, 449–452 (2014). https://doi.org/10.1007/s00401-014-1311-1

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  • DOI: https://doi.org/10.1007/s00401-014-1311-1

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