SMARCB1 mutations are not a common cause of multiple meningiomas

Journal of Medical Genetics

Volumn 47, Issue 8, 2010, Pages 567-568

  Hadfield, K D ^a   Smith, M J ^a   Trump, D ^a   Newman, W G ^a   Evans, D G ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; MENINGIOMA; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SMARCB1 GENE;

CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; HUMANS; MENINGEAL NEOPLASMS; MENINGIOMA; MUTATION; TRANSCRIPTION FACTORS;

EID: 77956120735     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.075721     Document Type: Article

References (14)

1. Bacci C, Sestini R, Provenzano A, Paganini I, Mancini I, Porfirio B, Vivarelli R, Genuardi M, Papi L. Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. Neurogenetics 2009.
2. Anon. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988;45:575-8.
3. Mohyuddin A, Neary WJ, Wallace AJ, Purcell S, Wu C-L, Reid H, Ramsden RT, Read AP, Evans DGR. Molecular genetic exclusion of NF2 in young patients diagnosed with a unilateral vestibular schwannoma. J Med Genet 2002;39:315-22. (Pubitemid 34526350)
4. Dumanski JP, Rouleau GA, Nordenskjold M, Collins VP. Molecular genetic analysis of chromosome 22 in 81 cases of meningioma. Cancer Res 1990;50:5863-7. (Pubitemid 20331391)
5. Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DG. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet 2008;45:332-9. (Pubitemid 351839473)
6. Schmitz U, Mueller W, Weber M, Sevenet N, Delattre O, von Deimling A. INI1 mutations in meningiomas at a potential hotspot in exon 9. Br J Cancer 2001;84:199-201. (Pubitemid 32113446)
7. Rieske P, Zakrzewska M, Piaskowski S, Jaskolski D, Sikorska B, Papierz W, Zakrzewski K, Liberski PP. Molecular heterogeneity of meningioma with INI1 mutation. Mol Pathol 2003;56:299-301. (Pubitemid 37243923)
8. Evans DG, Watson C, King A, Wallace AJ, Baser ME. Multiple meningiomas: differential involvement of the NF2 gene in children and adults. J Med Genet 2005;42:45-8. (Pubitemid 40187120)
9. Evans DGR, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, Wallace A. Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including MLPA. J Med Genet 2007;44:424-8.
10. Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998;394:203-6. (Pubitemid 28325977)
11. Grand F, Kulkarni S, Chase A, Goldman JM, Gordon M, Cross NC. Frequent deletion of hSNF5/INI1, a component of the SWI/SNF complex, in chronic myeloid leukemia. Cancer Res 1999;59:3870-4. (Pubitemid 29393542)
12. Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 2007;80:805-10. (Pubitemid 46564417)
13. Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 2008;29:227-31. (Pubitemid 351240594)
14. Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 2008;74:358-66.