Article
Single base pair germ-line deletion in the p53 gene in a cancer predisposed family.
Human genetics - 1 Jul 1994
Hamelin R, Barichard F, Henry I, Junien C, Thomas G
Abstract excerpt
A family with an aggregation of adrenocortical carcinoma, rhabdomyosarcoma, osteosarcoma, and early onset breast cancer was referred to our laboratory. Because this aggregation was reminiscent of Li-Fraumeni syndrome, germ-line mutation of the p53 tumor suppressor gene was sought in the DNA of two affected members. The highly conserved regions spanning exons 5 to 8 of the p53 gene were screened by a previously...
Topics
- Adult
- Child
- Female
- Genes, p53
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Male
- Middle Aged
- Neoplasms
- Pedigree
- Sequence Deletion