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

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://onlinelibrary.wiley.com/doi/10.1002/humu.22508/epdf
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 have negative 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 therapy. 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 have negative 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 therapy. (en)
Title	TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia (en)
skos:prefLabel	TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia TP53 Mutation Analysis in Clinical Practice: Lessons From Chronic Lymphocytic Leukemia (en)
skos:notation	RIV/00216224:14740/14:00078302!RIV15-MSM-14740___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(7E13008), P(ED1.1.00/02.0068), P(NT13493), P(NT13519)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Pospíšilová, Šárka Stano Kozubík, Kateřina Malčíková, Jitka Pavlová, Šárka
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Středoevropský technologický institut
http://linked.open...dnocenehoVysledku	50878
http://linked.open...ai/riv/idVysledku	RIV/00216224:14740/14:00078302
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	TP53; p53; chronic lymphocytic leukemia; clonal evolution; next generation sequencing (en)
http://linked.open.../riv/klicoveSlovo	next generation sequencing chronic lymphocytic leukemia p53 TP53 clonal evolution
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[1B61B3F18CA3]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...vavai/riv/projekt	Next Generation Sequencing Platform for Targeted Personalized Therapy of Leukemia Molecular Characterization of B-cell Receptors and Their Relationship to Evolution of Gemonic Aberrations in Chronic Lymphocytic Leukemia Early identification of CLL patients with yet unselected p53 mutation Central european institute of technology
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	35
http://linked.open...iv/tvurceVysledku	Pospíšilová, Šárka Pavlová, Šárka Malčíková, Jitka Staňo Kozubík, Kateřina
http://linked.open...ain/vavai/riv/wos	000336618900004
issn	1059-7794
number of pages	9 (xsd:int)
http://bibframe.org/vocab/doi	10.1002/humu.22508
http://localhost/t...ganizacniJednotka	14740

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