| Autor: |
Evans, Susan C., Mims, Betsy, McMasters, Kelly M., Foster, Carolyn J., deAndrade, Mariza, Amos, Christopher I., Strong, Louise C., Lozano, Guillermina |
| Zdroj: |
Human Genetics; July 1998, Vol. 102 Issue: 6 p681-686, 6p |
| Abstrakt: |
Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53have been identified. However, mutations in p53have not been detected in approximately 30% of LFS families. To address the possibility either that p53mutations were being missed or that another predisposing gene is altered in LFS, we used a variety of methods to accurately determine the p53status in a large LFS kindred. A transcriptional activation assay on exons 4–10 of p53excluded a mutation within the DNA-binding domain of p53. Single-stranded conformational-polymorphism analysis, using intronic primers and sequencing of all the coding exons and intron/exon junctions, also yielded no mutations. Finally, linkage analysis excluded potential mutations in the noncoding regions of p53. Our findings exclude the presence of a p53germline mutation in a classic LFS family. |
| Databáze: |
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