Detection and Functional Analysis of TP53 Mutations in CLL
Language English Country United States Media print
Document type Journal Article, Research Support, Non-U.S. Gov't
- Keywords
- FASAY, Low-burden mutations, Next-generation sequencing, Subclonal mutations, TP53,
- MeSH
- Alleles MeSH
- Leukemia, Lymphocytic, Chronic, B-Cell blood genetics pathology MeSH
- Humans MeSH
- Mutation MeSH
- DNA Mutational Analysis instrumentation methods MeSH
- Neoplastic Cells, Circulating pathology MeSH
- Tumor Suppressor Protein p53 genetics MeSH
- Genes, Reporter genetics MeSH
- Saccharomyces cerevisiae genetics MeSH
- Transfection instrumentation methods MeSH
- High-Throughput Nucleotide Sequencing instrumentation methods MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Tumor Suppressor Protein p53 MeSH
- TP53 protein, human MeSH Browser
Chronic lymphocytic leukemia (CLL) represents a prototype disease in which TP53 gene defects lead to inferior prognosis. Here, we present two distinct methodologies which can be used to identify TP53 mutations in CLL patients; both protocols are primarily intended for research purposes. The functional analysis of separated alleles in yeast (FASAY) can be flexibly adapted to a variable number of samples and provides an immediate functional readout of identified mutations. Amplicon-based next-generation sequencing then allows for a high throughput and accurately detects subclonal TP53 variants (sensitivity <1% of mutated cells).
Central European Institute of Technology Masaryk University Brno Czech Republic
Department of Internal Medicine Hematology and Oncology University Hospital Brno Brno Czech Republic
Department of Pathology University Hospital Brno Brno Czech Republic
References provided by Crossref.org
