Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the Neurofibromatosis type 1 (NF1) tumour-suppressor gene

1997 ◽  
Vol 373 (2) ◽  
pp. 185-195 ◽  
Author(s):  
David I Rodenhiser ◽  
J.D Andrews ◽  
D.N Mancini ◽  
J.H Jung ◽  
S.M Singh
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Tumour Suppressor

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1993 ◽  
Vol 3 (2) ◽  
pp. 122-126 ◽  
Author(s):  
Eric Legius ◽  
Douglas A. Marchuk ◽  
Francis S. Collins ◽  
Thomas W. Glover
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Tumour Suppressor

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1994 ◽  
Vol 3 (5) ◽  
pp. 813-816 ◽  
Author(s):  
David Bourn ◽  
Simon A. Carter ◽  
Susan Mason ◽  
D.Gareth R. Evans ◽  
Tom Strachan
Keyword(s):  
Neurofibromatosis Type ◽  
Germline Mutations ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Neurofibromatosis Type 2 ◽  
Tumour Suppressor

The molecular genetics of vestibular schwannoma

1995 ◽  
Vol 109 (5) ◽  
pp. 381-384 ◽  
Author(s):  
David A. Moffat ◽  
Richard M. Irving
Keyword(s):  
Vestibular Schwannoma ◽  
Familial Cancer ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Tumour Suppressor ◽  
Current Status ◽  
Cancer Syndrome ◽  
Sporadic Tumour

AbstractVestibular schwannoma occurs both as a sporadic tumour and in the dominantly inherited familial cancer syndrome neurofibromatosis type 2 (NF2). The gene for NF2 has recently beenisolated on chromosome 22, and the demonstration of inactivating germline mutations in NF2 patients and NF2 associated tumours suggests that it acts as a tumour suppressor. The results of recent research in Cambridge suggest that somatic mutations of the NF2 tumour suppressor gene are a critical step in the pathogenesis of both familial and indeed non-familial unilateral sporadic vestibular schwannoma and that the mechanism of tumourigenesis complies with the ‘two-hit’ model. This paper represents a brief review of the current status of molecular biology in relation to vestibular schwannoma in particular and is discussed in relation to the molecular pathology of skull base tumours as a whole.

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