TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F14%3A00078302" target="_blank" >RIV/00216224:14740/14:00078302 - isvavai.cz</a>

Result on the web

<a href="http://onlinelibrary.wiley.com/doi/10.1002/humu.22508/epdf" target="_blank" >http://onlinelibrary.wiley.com/doi/10.1002/humu.22508/epdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/humu.22508" target="_blank" >10.1002/humu.22508</a>

Result language

angličtina

Original language name

TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia

Original language description

In leukemia, TP53 mutations are not frequent but clearly associate with impaired survival and therapy response. Here, we describe the biological and clinical consequences of TP53 dysfunction as well as the methodical aspects of TP53 analysis in chronic lymphocytic leukemia (CLL). In CLL, TP53 defects are routinely analyzed as part of disease prognostication. Deletions of TP53 locus (17p) have been uniformly detected using I-FISH for several years. Since monoallelic mutations have also been shown to havenegative prognostic impact, it is recommended to examine both TP53 mutations and deletions. Several methods are used to detect TP53 mutations, and next-generation sequencing (NGS) is becoming a convenient option for routine analysis. Besides this, ultradeep NGS permits the detection of minor clones carrying TP53 mutations, even below 1%. The prognostic impact of minor TP53-defective subclones is currently unknown, nevertheless they unequivocally bear the risk of being selected by therap

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Human Mutation

ISSN

1059-7794

e-ISSN

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Volume of the periodical

35

Issue of the periodical within the volume

6

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

663-671

UT code for WoS article

000336618900004

EID of the result in the Scopus database

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