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Statements

Subject Item
n2:RIV%2F65269705%3A_____%2F13%3A%230002208%21RIV14-MZ0-65269705
rdf:type
skos:Concept n18:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1371/journal.pone.0077819
dcterms:description
Exome sequencing of primary tumors identifies complex somatic mutation patterns. Assignment of relevance of individual somatic mutations is difficult and poses the next challenge for interpretation of next generation sequencing data. Here we present an approach how exome sequencing in combination with SNP microarray data may identify targets of chromosomal aberrations in myeloid malignancies. The rationale of this approach is that hotspots of chromosomal aberrations might also harbor point mutations in the target genes of deletions, gains or uniparental disomies (UPDs). Chromosome 11 is a frequent target of lesions in myeloid malignancies. Therefore, we studied chromosome 11 in a total of 813 samples from 773 individual patients with different myeloid malignancies by SNP microarrays and complemented the data with exome sequencing in selected cases exhibiting chromosome 11 defects. We found gains, losses and UPDs of chromosome 11 in 52 of the 813 samples (6.4%). Chromosome 11q UPDs frequently associated with mutations of CBL. In one patient the 11qUPD amplified somatic mutations in both CBL and the DNA repair gene DDB1. A duplication within MLL exon 3 was detected in another patient with 11qUPD. We identified several common deleted regions (CDR) on chromosome 11. One of the CDRs associated with de novo acute myeloid leukemia (P=0.013). One patient with a deletion at the LMO2 locus harbored an additional point mutation on the other allele indicating that LMO2 might be a tumor suppressor frequently targeted by 11p deletions. Our chromosome-centered analysis indicates that chromosome 11 contains a number of tumor suppressor genes and that the role of this chromosome in myeloid malignancies is more complex than previously recognized.. Exome sequencing of primary tumors identifies complex somatic mutation patterns. Assignment of relevance of individual somatic mutations is difficult and poses the next challenge for interpretation of next generation sequencing data. Here we present an approach how exome sequencing in combination with SNP microarray data may identify targets of chromosomal aberrations in myeloid malignancies. The rationale of this approach is that hotspots of chromosomal aberrations might also harbor point mutations in the target genes of deletions, gains or uniparental disomies (UPDs). Chromosome 11 is a frequent target of lesions in myeloid malignancies. Therefore, we studied chromosome 11 in a total of 813 samples from 773 individual patients with different myeloid malignancies by SNP microarrays and complemented the data with exome sequencing in selected cases exhibiting chromosome 11 defects. We found gains, losses and UPDs of chromosome 11 in 52 of the 813 samples (6.4%). Chromosome 11q UPDs frequently associated with mutations of CBL. In one patient the 11qUPD amplified somatic mutations in both CBL and the DNA repair gene DDB1. A duplication within MLL exon 3 was detected in another patient with 11qUPD. We identified several common deleted regions (CDR) on chromosome 11. One of the CDRs associated with de novo acute myeloid leukemia (P=0.013). One patient with a deletion at the LMO2 locus harbored an additional point mutation on the other allele indicating that LMO2 might be a tumor suppressor frequently targeted by 11p deletions. Our chromosome-centered analysis indicates that chromosome 11 contains a number of tumor suppressor genes and that the role of this chromosome in myeloid malignancies is more complex than previously recognized..
dcterms:title
Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2 Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2
skos:prefLabel
Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2 Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2
skos:notation
RIV/65269705:_____/13:#0002208!RIV14-MZ0-65269705
n18:predkladatel
n19:ico%3A65269705
n3:aktivita
n7:V n7:Z n7:P
n3:aktivity
P(ED1.1.00/02.0068), V, Z(MSM0021622430)
n3:cisloPeriodika
10
n3:dodaniDat
n4:2014
n3:domaciTvurceVysledku
n13:3715434 n13:5378605 n13:1248790
n3:druhVysledku
n12:J
n3:duvernostUdaju
n6:S
n3:entitaPredkladatele
n5:predkladatel
n3:idSjednocenehoVysledku
66452
n3:idVysledku
RIV/65269705:_____/13:#0002208
n3:jazykVysledku
n17:eng
n3:klicovaSlova
CBL; DDB1; LMO2; myeloid malignancies target
n3:klicoveSlovo
n16:DDB1 n16:myeloid%20malignancies%20target n16:CBL n16:LMO2
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[381A2698304E]
n3:nazevZdroje
Plos One
n3:obor
n9:FD
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
28
n3:projekt
n20:ED1.1.00%2F02.0068
n3:rokUplatneniVysledku
n4:2013
n3:svazekPeriodika
8
n3:tvurceVysledku
Doubek, Michael Ráčil, Zdeněk Dvořáková, Dana
n3:wos
000326019400137
n3:zamer
n14:MSM0021622430
s:issn
1932-6203
s:numberOfPages
10
n21:doi
10.1371/journal.pone.0077819