Detection and functional analysis of TP53 mutations in CLL

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Authors

PAVLOVÁ Šárka ŠMARDOVÁ Jana TOM Nikola TRBUŠEK Martin

Year of publication 2019
Type Chapter of a book
MU Faculty or unit

Central European Institute of Technology

Citation
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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