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

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• 作者：Sonja Hutter (1)
  Rosario M. Piro (2) (3)
  David E. Reuss (4)
  Volker Hovestadt (2)
  Felix Sahm (4)
  Said Farschtschi (5)
  Hildegard Kehrer-Sawatzki (6)
  Stephan Wolf (7)
  Peter Lichter (2) (3) (8)
  Andreas von Deimling (4)
  Martin U. Schuhmann (9)
  Stefan M. Pfister (1) (10)
  David T. W. Jones (1)
  Victor F. Mautner (5)
  
• 刊名：Acta Neuropathologica
• 出版年：2014
• 出版时间：September 2014
• 年：2014
• 卷：128
• 期：3
• 页码：449-452
• 全文大小：602 KB
• 参考文献：1. Alexandrov LB, Nik-Zainal S, Wedge DC et al (2013) Signatures of mutational processes in human cancer. Nature 500(7463):415鈥?21. doi:10.1038/nature12477 CrossRef
  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鈥?66. doi:10.1111/j.1399-0004.2008.01060.x CrossRef
  3. Frattini V, Trifonov V, Chan JM et al (2013) The integrated landscape of driver genomic alterations in glioblastoma. Nat Genet 45(10):1141鈥?149. doi:10.1038/ng.2734 CrossRef
  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鈥?39. doi:10.1136/jmg.2007.056499 CrossRef
  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鈥?302. doi:10.1086/301633 CrossRef
  6. Kaufman DL, Heinrich BS, Willett C et al (2003) Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol 60(9):1317鈥?320. doi:10.1001/archneur.60.9.1317 CrossRef
  7. MacCollin M, Chiocca EA, Evans DG et al (2005) Diagnostic criteria for schwannomatosis. Neurology 64(11):1838鈥?845. doi:10.1212/01.WNL.0000163982.78900.AD CrossRef
  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鈥?974 CrossRef
  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鈥?87. doi:10.1038/ng.2855 CrossRef
  10. Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S (2011) SMARCB1/INI1 germline mutations contribute to 10聽% of sporadic schwannomatosis. BMC Neurol 11(1):9. doi:10.1186/1471-2377-11-9 CrossRef
  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鈥?31. doi:10.1002/humu.20679 CrossRef
  12. Smith MJ, Wallace AJ, Bowers NL et al (2012) Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics 13(2):141鈥?45. doi:10.1007/s10048-012-0319-8 CrossRef
  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
  
• 作者单位：Sonja Hutter (1)
  Rosario M. Piro (2) (3)
  David E. Reuss (4)
  Volker Hovestadt (2)
  Felix Sahm (4)
  Said Farschtschi (5)
  Hildegard Kehrer-Sawatzki (6)
  Stephan Wolf (7)
  Peter Lichter (2) (3) (8)
  Andreas von Deimling (4)
  Martin U. Schuhmann (9)
  Stefan M. Pfister (1) (10)
  David T. W. Jones (1)
  Victor F. Mautner (5)
  
  1. Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
  2. Division of Molecular Genetics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
  3. German Cancer Consortium (DKTK), 69120, Heidelberg, Germany
  4. Department of Neuropathology, Heidelberg University Hospital, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany
  5. Department of Neurology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany
  6. Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany
  7. Genomics and Proteomics Core Facility, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
  8. Heidelberg Center for Personalized Oncology (DKFZ-HIPO), 69120, Heidelberg, Germany
  9. Department of Neurosurgery, University Hospital T眉bingen, Hoppe-Seyler-Strasse 3, 72076, T眉bingen, Germany
  10. Department of Pediatric Oncology, Haematology and Immunology, Heidelberg University Hospital, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany
  
• ISSN：1432-0533

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