This HTML5 document contains 52 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
dctermshttp://purl.org/dc/terms/
n5http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n16http://linked.opendata.cz/resource/domain/vavai/subjekt/
n9http://linked.opendata.cz/ontology/domain/vavai/
n7http://linked.opendata.cz/resource/domain/vavai/zamer/
shttp://schema.org/
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
n3http://linked.opendata.cz/ontology/domain/vavai/riv/
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n4http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n11http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00064165%3A_____%2F11%3A10542%21RIV12-MZ0-00064165/
n13http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n19http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n6http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n17http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n10http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n14http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F11%3A10542%21RIV12-MZ0-00064165
rdf:type
n9:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.4149/neo_2011_05_392
dcterms:description
Checkpoint kinase 2 gene (CHEK2) codes for an important mediator of DNA damage response pathway. Mutations in the CHEK2 gene increase the risk of several cancer types, however, their role in Hodgkin lymphoma (HL) has not been studied so far. The most frequent CHEK2 alterations (including c.470T>C; p.I157T) cluster into the forkhead-associated (FHA) domain-coding region of the CHEK2 gene. We performed mutation analysis of the CHEK2 gene segment coding for FHA domain using denaturing high-performance liquid chromatography in 298 HL patients and analyzed the impact of characterized CHEK2 gene variants on the risk of HL development and progression-free survival (PFS). The overall frequency of CHEK2 alterations was significantly higher in HL patients (17/298; 5.7%) compared to the previously analyzed non-cancer controls (19/683; 2.8%; p= 0.04). Presence of any alteration within the analyzed region of the CHEK2 gene was associated with increased risk of HL development (OR = 2.11; 95% CI = 1.08 - 4.13; p= 0.04). The most frequent I157T mutation was found in 4.0% of HL patients and 2.5% of controls (p = 0.22), however, the frequency of 5 other alterations (excluding I157T) was significantly higher in HL cases and associated with increased risk of HL development (OR = 5.81; 95% CI = 1.12 - 30.12; p= 0.03). PFS in HL patients did not differ between CHEK2 mutation carriers and non-carriers. The predominant I157T mutation together with other alterations in its proximity represent moderate genetic predisposition factor increasing the risk of HL development. Checkpoint kinase 2 gene (CHEK2) codes for an important mediator of DNA damage response pathway. Mutations in the CHEK2 gene increase the risk of several cancer types, however, their role in Hodgkin lymphoma (HL) has not been studied so far. The most frequent CHEK2 alterations (including c.470T>C; p.I157T) cluster into the forkhead-associated (FHA) domain-coding region of the CHEK2 gene. We performed mutation analysis of the CHEK2 gene segment coding for FHA domain using denaturing high-performance liquid chromatography in 298 HL patients and analyzed the impact of characterized CHEK2 gene variants on the risk of HL development and progression-free survival (PFS). The overall frequency of CHEK2 alterations was significantly higher in HL patients (17/298; 5.7%) compared to the previously analyzed non-cancer controls (19/683; 2.8%; p= 0.04). Presence of any alteration within the analyzed region of the CHEK2 gene was associated with increased risk of HL development (OR = 2.11; 95% CI = 1.08 - 4.13; p= 0.04). The most frequent I157T mutation was found in 4.0% of HL patients and 2.5% of controls (p = 0.22), however, the frequency of 5 other alterations (excluding I157T) was significantly higher in HL cases and associated with increased risk of HL development (OR = 5.81; 95% CI = 1.12 - 30.12; p= 0.03). PFS in HL patients did not differ between CHEK2 mutation carriers and non-carriers. The predominant I157T mutation together with other alterations in its proximity represent moderate genetic predisposition factor increasing the risk of HL development.
dcterms:title
Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma
skos:prefLabel
Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma
skos:notation
RIV/00064165:_____/11:10542!RIV12-MZ0-00064165
n9:predkladatel
n16:ico%3A00064165
n3:aktivita
n6:S n6:I n6:Z
n3:aktivity
I, S, Z(MSM0021620808), Z(MSM0021620813)
n3:cisloPeriodika
5
n3:dodaniDat
n14:2012
n3:domaciTvurceVysledku
n5:7163045 n5:2625237
n3:druhVysledku
n10:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n11:predkladatel
n3:idSjednocenehoVysledku
185261
n3:idVysledku
RIV/00064165:_____/11:10542
n3:jazykVysledku
n19:eng
n3:klicovaSlova
Hodgkin lymphoma; checkpoint kinase 2 gene (CHEK2, CHK2); germ-line mutation; genetic predisposition; risk assessment
n3:klicoveSlovo
n4:CHK2%29 n4:germ-line%20mutation n4:genetic%20predisposition n4:Hodgkin%20lymphoma n4:checkpoint%20kinase%202%20gene%20%28CHEK2 n4:risk%20assessment
n3:kodStatuVydavatele
SK - Slovenská republika
n3:kontrolniKodProRIV
[CBE573D63D7E]
n3:nazevZdroje
Neoplasma
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
7
n3:rokUplatneniVysledku
n14:2011
n3:svazekPeriodika
58
n3:tvurceVysledku
Špaček, Martin Trněný, Marek Hubáček, Petr Kleibl, Zdeněk Marková, Jana Havránek, Ondřej Mociková, Heidi
n3:wos
000295309700005
n3:zamer
n7:MSM0021620808 n7:MSM0021620813
s:issn
0028-2685
s:numberOfPages
4