Article
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene.
Oncogene - 13 Feb 2003
Bougeard Gaëlle, Brugières Laurence, Chompret Agnès, Gesta Paul, Charbonnier Françoise, Valent Alexander, Martin Cosette, Raux Grégory, Feunteun Jean, Bressac-de Paillerets Brigitte, Frébourg Thierry
Abstract excerpt
The absence of detectable germline TP53 mutations in a fraction of families with Li-Fraumeni syndrome (LFS) has suggested the involvement of other genes, but this hypothesis remains controversial. The density of Alu repeats within the TP53 gene led us to search genomic rearrangements of TP53 in families without detectable TP53 mutation. To this aim, we adapted the quantitative multiplex PCR of short fluorescent...
Topics
- DNA Primers
- Female
- Gene Deletion
- Genes, p53
- Genetic Predisposition to Disease
- Humans
- Li-Fraumeni Syndrome
- Male
- Pedigree
- Sarcoma
- Sequence Analysis, DNA