Detection and functional analysis of TP53 mutations in CLL

C 2019

Detection and functional analysis of TP53 mutations in CLL

PAVLOVÁ, Šárka, Jana ŠMARDOVÁ, Nikola TOM and Martin TRBUŠEK

Basic information

Original name

Detection and functional analysis of TP53 mutations in CLL

Authors

PAVLOVÁ, Šárka, Jana ŠMARDOVÁ, Nikola TOM and Martin TRBUŠEK

Edition

Humana New York, NY, Methods in Molecular Biology - Chronic Lymphocytic Leukemia: Methods and Protocols, p. 63-81, 20 pp. 1881, 2019

Publisher

Springer Science + Business Media, LLC part of Springer Nature

Other information

Language

English

Type of outcome

Kapitola resp. kapitoly v odborné knize

Field of Study

10608 Biochemistry and molecular biology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

Publication form

printed version "print"

References:

URL

Organization unit

Central European Institute of Technology

ISBN

978-1-4939-9405-2

DOI

http://dx.doi.org/10.1007/978-1-4939-8876-1

UT WoS

000683074300007

Keywords in English

Chronic lymphocytic leukemia; TP53 gene; mutations; next generation sequencing

Abstract

V originále

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.

Links

LM2015091, research and development project

Name: Národní centrum lékařské genomiky (Acronym: NCLG)

Investor: Ministry of Education, Youth and Sports of the CR

LQ1601, research and development project

Name: CEITEC 2020 (Acronym: CEITEC2020)

Investor: Ministry of Education, Youth and Sports of the CR

TE02000058, research and development project

Name: Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu (Acronym: MOLDIMED)

Investor: Technology Agency of the Czech Republic

15-33999A, interní kód MU
(CEP code: NV15-33999A)

Name: Vývoj nových nízkomolekulárních protinádorových léčiv na principu syntetické letality

Investor: Ministry of Health of the CR

Citovat

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.

@inbook{1614656,
   author = {Pavlová, Šárka and Šmardová, Jana and Tom, Nikola and Trbušek, Martin},
   address = {Humana New York, NY},
   booktitle = {Methods in Molecular Biology - Chronic Lymphocytic Leukemia: Methods and Protocols},
   doi = {http://dx.doi.org/10.1007/978-1-4939-8876-1},
   keywords = {Chronic lymphocytic leukemia; TP53 gene; mutations; next generation sequencing},
   howpublished = {tištěná verze "print"},
   language = {eng},
   location = {Humana New York, NY},
   isbn = {978-1-4939-9405-2},
   pages = {63-81},
   publisher = {Springer Science + Business Media, LLC part of Springer Nature},
   title = {Detection and functional analysis of TP53 mutations in CLL},
   url = {https://link.springer.com/protocol/10.1007/978-1-4939-8876-1_6},
   year = {2019}
}

TY  - CHAP
ID  - 1614656
AU  - Pavlová, Šárka - Šmardová, Jana - Tom, Nikola - Trbušek, Martin
PY  - 2019
TI  - Detection and functional analysis of TP53 mutations in CLL
VL  - 1881
PB  - Springer Science + Business Media, LLC part of Springer Nature
CY  - Humana New York, NY
SN  - 9781493994052
KW  - Chronic lymphocytic leukemia
KW  - TP53 gene
KW  - mutations
KW  - next generation sequencing
UR  - https://link.springer.com/protocol/10.1007/978-1-4939-8876-1_6
N2  - 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.
ER  -

PAVLOVÁ, Šárka, Jana ŠMARDOVÁ, Nikola TOM and Martin TRBUŠEK. Detection and functional analysis of TP53 mutations in CLL. In \textit{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.

Detailed Information on Publication Record