Article
Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jul 1992
Frebourg T, Kassel J, Lam K T, Gryka M A, Barbier N, Andersen T I, Børresen A L, Friend S H
Abstract excerpt
Germ-line mutations in the p53 tumor suppressor gene have been observed in patients with Li-Fraumeni syndrome, brain tumors, second malignancies, and breast cancers. It is unclear whether all of these mutations have inactivated p53 and thereby provide an increased risk for cancer. Therefore, it is necessary to establish the biological significance of these germ-line mutations by the functional and structural...
Topics
- Base Sequence
- Breast Neoplasms
- Cell Division
- Genes, Tumor Suppressor
- Genes, p53
- Humans
- Li-Fraumeni Syndrome
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation