title: Detection of TP53 gene mutations in human sarcomas.
abstract: To determine the frequency and type of TP53 mutations in human sarcomas, we examined exons 5-8 of the TP53 gene in 48 sarcomas using single-strand conformation polymorphism (SSCP) analysis and direct sequencing. Nine tumours had mobility-shifts on SSCP analysis, and sequencing of six of these tumours revealed 10 mutations: one insertion, two deletions and seven point mutations (four transitions and three transversions). Four of these mutations resulted in frame-shifts, one in a truncated protein, four cases in mono-allelic point mutations and one case in an altered splice site. These data show that approximately 20% of sarcomas harbour TP53 gene alterations and illustrate a variety of TP53 gene mutation types.
authors.affiliation: Instituto de Investigaciones Biomédicas, CSIC, Madrid, Spain.
authors.forename: J S
authors.initials: JS
authors.lastname: Castresana
authors.forename: M P
authors.initials: MP
authors.lastname: Rubio
authors.forename: L
authors.initials: L
authors.lastname: Gómez
authors.forename: A
authors.initials: A
authors.lastname: Kreicbergs
authors.forename: A
authors.initials: A
authors.lastname: Zetterberg
authors.forename: C
authors.initials: C
authors.lastname: Barrios
mesh_terms: D001483:Base Sequence; D005091:Exons; D017353:Gene Deletion; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D008067:Lipoma / Q000235:genetics; D008969:Molecular Sequence Data; D012516:Osteosarcoma / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012509:Sarcoma / Q000235:genetics*; D017422:Sequence Analysis, DNA