Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

Vestibular schwannoma occurs both as a sporadic tumour and In the dominantly inherited familial cancer syndrome neuroflbromatosis type 2 (NF2). The gene for NF2 has recently been Isolated on chromosome 22, and the demonstration of inactivating germllne mutations In NF2 patients and NF2 associated tu...

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Veröffentlicht in:Human molecular genetics 1994-02, Vol.3 (2), p.347-350
Hauptverfasser: Irving, Richard M., Moffat, David A., Hardy, David G., Barton, David E., Xuereb, John H., Maher, Eamonn R.
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container_end_page 350
container_issue 2
container_start_page 347
container_title Human molecular genetics
container_volume 3
creator Irving, Richard M.
Moffat, David A.
Hardy, David G.
Barton, David E.
Xuereb, John H.
Maher, Eamonn R.
description Vestibular schwannoma occurs both as a sporadic tumour and In the dominantly inherited familial cancer syndrome neuroflbromatosis type 2 (NF2). The gene for NF2 has recently been Isolated on chromosome 22, and the demonstration of inactivating germllne mutations In NF2 patients and NF2 associated tumours suggests that it act as a tumour suppressor. We have investigated 85 sporadic and 2 NF2 associated vestibular schwannomas, and one vagal schwannoma for chromosome 22 allele loss and NF2 gene mutations. A further 7 vestibular schwannomas were Investigated for NF2 mutations only. Chromosome 22 allele loss was detected in 34 of 87 vestibular schwannomas and In the vagal nerve schwannoma. Six exons of the NF2 gene were Investigated by SSCP analysis in all 95 tumours. Somatic NF2 gene mutations were detected In 13 non-familial vestibular schwannomas. and in one of the NF2 vestibular schwannomas. Seven non-famlllal tumours with an NF2 gene mutation also displayed a chromosome 22 allele loss. Thirteen of the mutations were predicted to produce truncation of the NF2 protein. These results suggest that somatic mutations of the NF2 tumour suppressor gene are a critical step In the pathogenesis of both famlllal and non-famlllal vestibular schwannoma and that the mechanism of tumourigenesis complles with a ‘two-hit’ mutation model.
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ispartof Human molecular genetics, 1994-02, Vol.3 (2), p.347-350
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language eng
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source MEDLINE; Oxford Journals A-Z Collection
subjects Adult
Aged
Base Sequence
Biological and medical sciences
chromosome 22
Codon
Cranial Nerve Neoplasms - genetics
Female
Genes, Neurofibromatosis 2
Humans
Male
man
Medical sciences
Middle Aged
Molecular Sequence Data
Mutation
Neurofibromatosis 2 - genetics
Neurology
Neuroma, Acoustic - genetics
NF2 gene
Polymorphism, Genetic
Recklinghausen's disease
schwannoma
Sequence Deletion
tumor suppressor genes
Tumors of the nervous system. Phacomatoses
Vagus Nerve
Vestibular Nerve
vestibular system
title Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma
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