About: TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The TP53 mutation profile in chronic lymphocytic leukemia (CLL) and the correlation of TP53 mutations with allele status or associated molecular genetics are currently unknown. We performed a large mutation analysis of TP53 at four centers and characterized the pattern of TP53 mutations in CLL. We report on 268 mutations in 254 patients with CLL. Missense mutations appeared in 74% of cases compared with deletions and insertions (20%), nonsense (4%) and splice site (2%) mutations. The majority (243 of 268) of mutations were located in the DNA-binding domain. Transitions were found in 131 of 268 mutations, with only 41 occurring at methylated CpG sites (15%), suggesting that transitions at CpGs are uncommon. The codons most frequently mutated were at positions 175, 179, 248 and 273; in addition, we detected a common 2-nt deletion in the codon 209. Most mutations (199 of 259) were accompanied by deletion of the other allele (17p-). The TP53 mutation profile in chronic lymphocytic leukemia (CLL) and the correlation of TP53 mutations with allele status or associated molecular genetics are currently unknown. We performed a large mutation analysis of TP53 at four centers and characterized the pattern of TP53 mutations in CLL. We report on 268 mutations in 254 patients with CLL. Missense mutations appeared in 74% of cases compared with deletions and insertions (20%), nonsense (4%) and splice site (2%) mutations. The majority (243 of 268) of mutations were located in the DNA-binding domain. Transitions were found in 131 of 268 mutations, with only 41 occurring at methylated CpG sites (15%), suggesting that transitions at CpGs are uncommon. The codons most frequently mutated were at positions 175, 179, 248 and 273; in addition, we detected a common 2-nt deletion in the codon 209. Most mutations (199 of 259) were accompanied by deletion of the other allele (17p-). (en)
Title	TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations (en)
skos:prefLabel	TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations (en)
skos:notation	RIV/00216224:14110/10:00051668!RIV12-MSM-14110___
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NS10439), P(NS9858)
http://linked.open...iv/cisloPeriodika	12
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Pospíšilová, Šárka Kuglík, Petr Mayer, Jiří Šmardová, Jana Malčíková, Jitka Trbušek, Martin
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 / Lékařská fakulta
http://linked.open...dnocenehoVysledku	293182
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/10:00051668
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CLL; genetics; 17p deletion; p53; TP53 mutation (en)
http://linked.open.../riv/klicoveSlovo	17p deletion TP53 mutation genetics p53 CLL
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[F2356379377B]
http://linked.open...i/riv/nazevZdroje	Leukemia
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	28 (xsd:int)
http://linked.open...vavai/riv/projekt	Analysis of changes in genome and its expression in chronic lymphocytic leukemia patients during the disease development Prognostic stratification of CLL patients according to genetic alterations of TP53 gene - detection of mutations using functional analysis in combination with modern approaches
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	24
http://linked.open...iv/tvurceVysledku	Kuglík, Petr Mayer, Jiří Pospíšilová, Šárka Hallek, M. Stilgenbauer, S. Malčíková, Jitka Trbušek, Martin Šmardová, Jana Oscier, D. Zenz, T. Benner, A. Denzel, T. Döhner, H. Fuge, M. Gardiner, A. Helfrich, H. Heuberger, M. Hoth, P. Häbe, S. Ibbotson, R. Lin, K. Patten, N. Pettitt, A. Soussi, T. Tracy, I. Truong, S. Vollmer, D. Wu, L.
http://linked.open...ain/vavai/riv/wos	000285380900012
issn	0887-6924
number of pages	8 (xsd:int)
http://bibframe.org/vocab/doi	10.1038/leu.2010.208
http://localhost/t...ganizacniJednotka	14110
is http://linked.open...avai/riv/vysledek of	TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations

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