title: A functional screen for germ line p53 mutations based on transcriptional activation.
abstract: Germ line p53 mutations represent a genetic predisposition for cancer development. At the present time, their detection requires extensive work and their functional significance must be documented. Therefore, we have designed a simple biological assay which detects functionally significant germ line p53 mutations. This assay is based on the cloning of the patient's p53 complementary DNA into a eukaryotic expression vector followed by the cotransfection into human cells of the recombinant vector with a reporter plasmid for the transcriptional activity of p53. This assay potentially offers a powerful method to screen fibroblasts or lymphocytes from patients for germ line mutations which inactivate the p53 tumor suppressor gene.
authors.affiliation: Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown 02129.
authors.forename: T
authors.initials: T
authors.lastname: Frebourg
authors.forename: N
authors.initials: N
authors.lastname: Barbier
authors.forename: J
authors.initials: J
authors.lastname: Kassel
authors.forename: Y S
authors.initials: YS
authors.lastname: Ng
authors.forename: P
authors.initials: P
authors.lastname: Romero
authors.forename: S H
authors.initials: SH
authors.lastname: Friend
mesh_terms: D001483:Base Sequence; D016158:Genes, p53; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010957:Plasmids; D015533:Transcriptional Activation