title: Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.
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.
authors.affiliation: Department of Molecular Genetics and Cell Biology, Bristol-Myers Squibb Pharmaceutical Research Institute, Princeton, New Jersey 08543-4000.
authors.forename: A B
authors.initials: AB
authors.lastname: Bianchi
authors.forename: T
authors.initials: T
authors.lastname: Hara
authors.forename: V
authors.initials: V
authors.lastname: Ramesh
authors.forename: J
authors.initials: J
authors.lastname: Gao
authors.forename: A J
authors.initials: AJ
authors.lastname: Klein-Szanto
authors.forename: F
authors.initials: F
authors.lastname: Morin
authors.forename: A G
authors.initials: AG
authors.lastname: Menon
authors.forename: J A
authors.initials: JA
authors.lastname: Trofatter
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
authors.forename: B R
authors.initials: BR
authors.lastname: Seizinger
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D002277:Carcinoma / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000097:blood; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins / Q000737:chemistry / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D009442:Neurilemmoma / Q000235:genetics*; D025581:Neurofibromin 2; D017433:Protein Structure, Secondary; D012333:RNA, Messenger / Q000032:analysis / Q000737:chemistry; D012334:RNA, Neoplasm / Q000032:analysis* / Q000737:chemistry; D014158:Transcription, Genetic
chemical_list: D004273:DNA, Neoplasm; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D025581:Neurofibromin 2; D012333:RNA, Messenger; D012334:RNA, Neoplasm