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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F12%3A8084%21RIV13-MZ0-00064203
rdf:type
skos:Concept n9:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1038/leu.2011.302
dcterms:description
Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12; 21)(p13;q22) - the most common chromosomal translocation observed in childhood ALL - which leads to an ETV6-RUNX1 gene fusion. The eight most strongly associated SNPs were followed-up in 951 ETV6-RUNX1-positive cases and 3061 controls from Germany/Austria and Italy, respectively. We identified a novel, genome-wide significant risk locus at 3q28 (TP63, rs17505102, P-CMH = 8.94 x 10(-9), OR = 0.65). The separate analysis of the combined German/Austrian sample only, revealed additional genome-wide significant associations at 11q11 (OR8U8, rs1945213, P = 9.14 x 10(-11), OR = 0.69) and 8p21.3 (near INTS10, rs920590, P = 6.12 x 10(-9), OR = 1.36). These associations and another association at 11p11.2 (PTPRJ, rs3942852, P = 4.95 x 10(-7), OR = 0.72) remained significant in the German/Austrian replication panel after correction for multiple testing. Our findings demonstrate that germline genetic variation can specifically contribute to the risk of ETV6-RUNX1-positive childhood ALL. The identification of TP63 and PTPRJ as susceptibility genes emphasize the role of the TP53 gene family and the importance of proteins regulating cellular processes in connection with tumorigenesis. Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12; 21)(p13;q22) - the most common chromosomal translocation observed in childhood ALL - which leads to an ETV6-RUNX1 gene fusion. The eight most strongly associated SNPs were followed-up in 951 ETV6-RUNX1-positive cases and 3061 controls from Germany/Austria and Italy, respectively. We identified a novel, genome-wide significant risk locus at 3q28 (TP63, rs17505102, P-CMH = 8.94 x 10(-9), OR = 0.65). The separate analysis of the combined German/Austrian sample only, revealed additional genome-wide significant associations at 11q11 (OR8U8, rs1945213, P = 9.14 x 10(-11), OR = 0.69) and 8p21.3 (near INTS10, rs920590, P = 6.12 x 10(-9), OR = 1.36). These associations and another association at 11p11.2 (PTPRJ, rs3942852, P = 4.95 x 10(-7), OR = 0.72) remained significant in the German/Austrian replication panel after correction for multiple testing. Our findings demonstrate that germline genetic variation can specifically contribute to the risk of ETV6-RUNX1-positive childhood ALL. The identification of TP63 and PTPRJ as susceptibility genes emphasize the role of the TP53 gene family and the importance of proteins regulating cellular processes in connection with tumorigenesis.
dcterms:title
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia
skos:prefLabel
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia
skos:notation
RIV/00064203:_____/12:8084!RIV13-MZ0-00064203
n9:predkladatel
n10:ico%3A00064203
n4:aktivita
n17:I
n4:aktivity
I
n4:cisloPeriodika
5
n4:dodaniDat
n12:2013
n4:domaciTvurceVysledku
n15:1071718 n15:7384874
n4:druhVysledku
n16:J
n4:duvernostUdaju
n6:S
n4:entitaPredkladatele
n18:predkladatel
n4:idSjednocenehoVysledku
140298
n4:idVysledku
RIV/00064203:_____/12:8084
n4:jazykVysledku
n14:eng
n4:klicovaSlova
genome-wide association study; childhood acute lymphoblastic leukemia; TP63; p53 homolog; b-cell; mutational analysis; gene-expression; breast-cancer; p63; ptprj; association; 14q11.2; 10q21.2
n4:klicoveSlovo
n8:mutational%20analysis n8:ptprj n8:b-cell n8:p63 n8:TP63 n8:10q21.2 n8:14q11.2 n8:p53%20homolog n8:childhood%20acute%20lymphoblastic%20leukemia n8:genome-wide%20association%20study n8:association n8:gene-expression n8:breast-cancer
n4:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n4:kontrolniKodProRIV
[987309F93357]
n4:nazevZdroje
Leukemia
n4:obor
n5:FD
n4:pocetDomacichTvurcuVysledku
2
n4:pocetTvurcuVysledku
27
n4:rokUplatneniVysledku
n12:2012
n4:svazekPeriodika
26
n4:tvurceVysledku
Teigler-Schlegel, A. Ellinghaus, E. Ellinghaus, D. Grumayer, RP Cinek, Ondřej Kronnie, GT Bartram, T. Schrappe, M. Zimmermann, M. Nebel, A. Heinzow, B. Franke, A. Nurnberg, P. Cario, G. Horstmann, M. Richter, G. Cazzaniga, G. Stanulla, M. ElSharawy, A. Hasler, R. Cave, H. Franceschi, C. Lescai, F. Meissner, B. Giordan, M. Trka, Jan Schreiber, S.
n4:wos
000303883500006
s:issn
0887-6924
s:numberOfPages
8