title: Detection of somatic TP53 splice site mutations in diffuse astrocytomas.
abstract: Alteration in TP53 is the most common genetic event reported for many tumors, including astrocytomas. The majority of studies, on analyzing TP53 mutations, have not included all splice junctions. Consequently, splice site mutations are thought to be relatively infrequent. TP53 were examined for mutations by polymerase chain reaction, single strand conformation polymorphism and direct sequencing in cases of diffuse astrocytomas. We found TP53 mutations in 17.8% (8 out of 45) of the tumors tested: 3 splicing, 3 missense and 2 silent mutations. We have shown that splice site mutations of TP53 are more frequent than previously reported. These findings emphasize the importance of thorough screening of TP53 mutations in gliomas.
authors.affiliation: Department of Neurology, School of Medicine, University of São Paulo, Av. Dr Arnaldo 455, Cerqueira César, room 4110, 01246-903 São Paulo, SP, Brazil. unomiyuki@lim15.fm.usp.br
authors.forename: Miyuki
authors.initials: M
authors.lastname: Uno
authors.forename: Sueli Mieko
authors.initials: SM
authors.lastname: Oba-Shinjo
authors.forename: Paulo Henrique
authors.initials: PH
authors.lastname: de Aguiar
authors.forename: Claudia C
authors.initials: CC
authors.lastname: Leite
authors.forename: Sérgio
authors.initials: S
authors.lastname: Rosemberg
authors.forename: Flávio K
authors.initials: FK
authors.lastname: Miura
authors.forename: Raul Marino
authors.initials: RM
authors.lastname: Junior
authors.forename: Milberto
authors.initials: M
authors.lastname: Scaff
authors.forename: Suely Kazue
authors.initials: SK
authors.lastname: Nagahashi Marie
mesh_terms: D001254:Astrocytoma / Q000235:genetics*; D001932:Brain Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D016158:Genes, p53; D006801:Humans; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites
chemical_list: D022821:RNA Splice Sites