The value of rapid functional assays of germline p53 status in LFS and LFL families
| Autor: | Rosalind A. Eeles, R Gilchrist, Richard Camplejohn, Diana M. Barnes, P M Duddy, C Miner, M E Lomax, Nayanta Sodha, P Alarcon-Gonzalez |
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| Rok vydání: | 2000 |
| Předmět: |
Male
p53 Silent mutation Cancer Research Molecular Sequence Data Biology medicine.disease_cause Risk Assessment Germline Exon Germline mutation Neoplasms medicine Humans Genetic Testing Gene Germ-Line Mutation Genetic testing FASAY Genetics Mutation Base Sequence medicine.diagnostic_test apoptosis Reproducibility of Results Regular Article Genes p53 medicine.disease Li–Fraumeni syndrome Oncology Biological Assay Female |
| Zdroj: | British Journal of Cancer |
| ISSN: | 1532-1827 0007-0920 |
| DOI: | 10.1054/bjoc.1999.1054 |
| Popis: | We have tested two rapid assays of p53 function, namely the apoptotic assay and the FASAY as means of detecting germline p53 mutations in members of Li–Fraumeni and Li–Fraumeni-like families. Results of the functional assays have been compared with direct sequencing of all 11 exons of the p53 gene. The results show good agreement between the two functional assays and between them and sequencing. No false-positives or negatives were seen with either functional assay although the apoptotic assay gave one borderline result for an individual without a mutation. As an initial screen the apoptotic assay is not only rapid but inexpensive and very simple to perform. It would be expected to detect any germline defect that leads to loss of p53 function. The apoptotic assay could be ideal as a means of prescreening large numbers of samples and identifying those that require further investigation. The FASAY detects mutations in exons 4–10, is rapid and distinguishes between functionally important and silent mutations. © 2000 Cancer Research Campaign |
| Databáze: | OpenAIRE |
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