FCCC LOGO Faculty Publications
Bianchi AB , Hara T , Ramesh V , Gao JZ , Kleinszanto AJP , Morin F , Menon AG , Trofatter JA , Gusella JF , Seizinger BR , Kley N
Mutations in Transcript Isoforms of the Neurofibromatosis-2 Gene in Multiple Human Tumor Types
Nature Genetics. 1994 Feb;6(2) :185-192
PMID: ISI:A1994MU76300015   
Back to previous list
Abstract
The neurofibromatosis 2 gene (NF2) has recently been isolated and predicted to encode a novel protein related to the moesin- ezrin-radixin family of cytoskeleton-associated proteins. Here we describe a novel isoform of the NF2 transcript that shows differential tissue expression and encodes a modified C terminus of the predicted protein. Mutations affecting both isoforms of the NF2 transcript were detected in multiple tumour types including melanoma and breast carcinoma. These findings provide evidence that alterations in the NF2 transcript occur not only in the hereditary brain neoplasms typically associated with NF2, but also as somatic mutations in their sporadic counterparts and in seemingly unrelated tumour types. The NF2 gene may thus constitute a tumour suppressor gene of more general importance in tumorigenesis.
Notes
English Article MU763 NAT GENET