Article
Germ-line splicing mutation of the p53 gene in a cancer-prone family.
Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research - 1 Nov 1992
Warneford S G, Witton L J, Townsend M L, Rowe P B, Reddel R R, Dalla-Pozza L, Symonds G
Abstract excerpt
Li-Fraumeni syndrome is a rare autosomal dominant susceptibility to a variety of cancers including carcinomas of the breast and the adrenal cortex, tumors of brain and muscle tissue, and leukemias. Affected individuals develop cancer at a young age and often at multiple primary sites. A study has...
Topics
- Adrenal Cortex Neoplasms
- Base Sequence
- Breast Neoplasms
- Carcinoma
- DNA Probes
- Female
- Genes, p53
- Genetic Predisposition to Disease
- Humans
- Introns
- Li-Fraumeni Syndrome
- Male
- Molecular Sequence Data
- Neoplasms, Multiple Primary
- Pedigree
- Polymerase Chain Reaction
- RNA Splicing
- Regulatory Sequences, Nucleic Acid