Publication details
Detection and functional analysis of TP53 mutations in CLL
| Authors | |
|---|---|
| Year of publication | 2019 |
| Type | Chapter of a book |
| MU Faculty or unit | |
| Citation | PAVLOVÁ, Šárka, Jana ŠMARDOVÁ, Nikola TOM and Martin TRBUŠEK. Detection and functional analysis of TP53 mutations in CLL. In Methods in Molecular Biology - Chronic Lymphocytic Leukemia: Methods and Protocols. Humana New York, NY: Springer Science + Business Media, LLC part of Springer Nature, 2019, p. 63-81, 20 pp. 1881. ISBN 978-1-4939-9405-2. Available from: https://dx.doi.org/10.1007/978-1-4939-8876-1. |
| Description | 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. |
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