Article
Absence of germline mutations in exons 5-9 of the p53 gene in patients with Li-Fraumeni-like (SBLA) and familial adenomatous polyposis heritable cancer syndromes.
Cancer genetics and cytogenetics - 1 Sept 1996
Moore S K, Zambrano N, Lynch H T, Lipkin M, Kopelovich L
Abstract excerpt
Although acquired mutations in the human p53 gene occur in many tumor types, germline mutations are rare. An exception is the occurrence of germline p53 mutations in a fraction of families afflicted with the Li-Fraumeni syndrome (LFS). Previous studies from our laboratory demonstrated increased l...
Topics
- Adenomatous Polyposis Coli
- Adult
- Biopsy
- Child, Preschool
- DNA Primers
- DNA, Neoplasm
- Exons
- Female
- Fibroblasts
- Genes, p53
- Humans
- Introns
- Li-Fraumeni Syndrome
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction