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Detection and Functional Analysis of TP53 Mutations in CLL
S. Pavlova, J. Smardova, N. Tom, M. Trbusek,
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
- 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
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 Pathology University Hospital Brno Brno Czech Republic
References provided by Crossref.org
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- $a Pavlova, Sarka $u Department of Internal Medicine, Hematology and Oncology, University Hospital Brno, Brno, Czech Republic. Faculty of Medicine, Masaryk University, Brno, Czech Republic. Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
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- $a 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).
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