1. Analysis of p16 gene deletion and point mutation in breast carcinoma
- Author
-
Bruno Quesnel, J. Fournier, Pierre Fenaux, Jean-Philippe Peyrat, Nathalie Philippe, Claude Preudhomme, and Jacques Bonneterre
- Subjects
Cancer Research ,Molecular Sequence Data ,Breast Neoplasms ,Biology ,Polymerase Chain Reaction ,Frameshift mutation ,Exon ,Germline mutation ,Missense mutation ,Humans ,Point Mutation ,Genes, Tumor Suppressor ,Cyclin-Dependent Kinase Inhibitor p16 ,Polymorphism, Single-Stranded Conformational ,Genetics ,Gene Rearrangement ,Base Sequence ,Point mutation ,Homozygote ,Single-strand conformation polymorphism ,Gene rearrangement ,Exons ,Molecular biology ,Blotting, Southern ,Oncology ,Breast carcinoma ,Carrier Proteins ,Gene Deletion ,Research Article - Abstract
We looked for p16 gene deletion by Southern analysis and p16 gene point mutation by single-stranded conformation polymorphism (SSCP) analysis and direct sequencing of DNA from fresh tumour samples of 35 and 33 breast carcinomas respectively. No homozygous p16 gene deletion was found in any case. A missense point mutation of the p16 gene was found in only one patient. This point mutation was absent from the patient's lymphocytes, ruling out a polymorphism or a germline mutation. These findings suggest that p16 gene alterations are rarely observed in breast carcinoma. Images Figure 1
- Published
- 1995