SMARCB1 mutations are not a common cause of multiple meningiomas
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作者:
Hadfield, K. D.
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Univ Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, EnglandUniv Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, England
Hadfield, K. D.
[1
]
Smith, M. J.
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Univ Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, EnglandUniv Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, England
Smith, M. J.
[1
]
Trump, D.
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Univ Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, EnglandUniv Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, England
Trump, D.
[1
]
Newman, W. G.
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Univ Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, EnglandUniv Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, England
Newman, W. G.
[1
]
Evans, D. G.
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Univ Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, EnglandUniv Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, England
Evans, D. G.
[1
]
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[1] Univ Manchester, St Marys Hosp, MAHSC, Dept Med Genet, Manchester M13 9WL, Lancs, England
Background Schwannomas and meningiomas are both part of the tumour spectrum of neurofibromatosis type 2 (NF2) and are associated with somatic loss of chromosome 22. They are also found commonly within the general population, unrelated to NF2. Germline SMARCB1 mutations have recently been identified as a pathogenic cause of a subset of familial schwannomatosis cases, and SMARCB1 is a candidate gene for causation of both schwannomas and meningiomas. Recently, Bacci et al reported a germline SMARCB1 mutation associated with familial schwannomatosis and multiple meningiomas. They concluded that SMARCB1 mutations can predispose to multiple meningiomas. Methods We screened the SMARCB1 gene in a panel of 47 patients with multiple meningioma unrelated to NF2. Results We found no germline mutations. Conclusion We conclude that while meningiomas may be associated with the schwannomatosis phenotype, SMARCB1 is not a major contributor to multiple meningioma disease.
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Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Boyd, C.
Smith, M. J.
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Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Smith, M. J.
Kluwe, L.
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Univ Hosp Eppendorf, Dept Maxillofacial Surg, Hamburg, GermanyMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Kluwe, L.
Balogh, A.
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h-index: 0
机构:
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Balogh, A.
MacCollin, M.
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Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
MacCollin, M.
Plotkin, S. R.
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Massachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Hadfield, K. D.
Newman, W. G.
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Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Newman, W. G.
Bowers, N. L.
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机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Bowers, N. L.
Wallace, A.
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h-index: 0
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Wallace, A.
Bolger, C.
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Natl Ctr Neurosurg, Dublin, IrelandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Bolger, C.
Colley, A.
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Liverpool Hosp, Dept Clin Genet, Sydney, NSW, AustraliaUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Colley, A.
McCann, E.
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h-index: 0
机构:
Glan Glwyd Hosp, Dept Clin Genet, Rhyl, Denbigh, WalesUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
McCann, E.
Trump, D.
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机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Trump, D.
Prescott, T.
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机构:
Univ Med Ctr, Rikshosp, Dept Med Genet, N-0027 Oslo, NorwayUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Prescott, T.
Evans, D. G. R.
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h-index: 0
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
机构:
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Boyd, C.
Smith, M. J.
论文数: 0引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Smith, M. J.
Kluwe, L.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Hosp Eppendorf, Dept Maxillofacial Surg, Hamburg, GermanyMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Kluwe, L.
Balogh, A.
论文数: 0引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Balogh, A.
MacCollin, M.
论文数: 0引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
MacCollin, M.
Plotkin, S. R.
论文数: 0引用数: 0
h-index: 0
机构:
Massachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USAMassachusetts Gen Hosp, Pappas Ctr Neurooncol, Boston, MA 02114 USA
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Hadfield, K. D.
Newman, W. G.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Newman, W. G.
Bowers, N. L.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Bowers, N. L.
Wallace, A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Wallace, A.
Bolger, C.
论文数: 0引用数: 0
h-index: 0
机构:
Natl Ctr Neurosurg, Dublin, IrelandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Bolger, C.
Colley, A.
论文数: 0引用数: 0
h-index: 0
机构:
Liverpool Hosp, Dept Clin Genet, Sydney, NSW, AustraliaUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Colley, A.
McCann, E.
论文数: 0引用数: 0
h-index: 0
机构:
Glan Glwyd Hosp, Dept Clin Genet, Rhyl, Denbigh, WalesUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
McCann, E.
Trump, D.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Trump, D.
Prescott, T.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Med Ctr, Rikshosp, Dept Med Genet, N-0027 Oslo, NorwayUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Prescott, T.
Evans, D. G. R.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Manchester, Acad Unit Med Genet, Manchester, Lancs, England
Royal Manchester Childrens Hosp, Reg Genet Serv, Manchester, Lancs, EnglandUniv Manchester, Acad Unit Med Genet, Manchester, Lancs, England