A functional screen for germ line p53 mutations based on transcriptional activation.
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.
Frebourg
T
T
Division of Molecular Genetics, Massachusetts General Hospital Cancer Center, Charlestown 02129.
Barbier
N
N
Kassel
J
J
Ng
Y S
YS
Romero
P
P
Friend
S H
SH
D001483:Base Sequence; D016158:Genes, p53; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010957:Plasmids; D015533:Transcriptional Activation