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WES - samples

ABSTRACT: Genomic DNA from leukemic and remission bone marrow mononuclear cells was isolated with the QIAamp DNA Blood Extraction Kit (Qiagen, Venlo, The Netherlands). Libraries were prepared with the Illumina TruSeq DNA Sample Prep and TruSeq Exome Enrichment Kits (Illumina, San Diego, CA, USA) according to the manufacturer's recommendations. 100 bp paired-end sequencing was performed on a HiSeq 2000 (Illumina) to about 80x coverage.

PROVIDER: EGAD00001002653 | EGA |

REPOSITORIES: EGA

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KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.

Malinowska-Ozdowy K K Frech C C Schönegger A A Eckert C C Cazzaniga G G Stanulla M M zur Stadt U U Mecklenbräuker A A Schuster M M Kneidinger D D von Stackelberg A A Locatelli F F Schrappe M M Horstmann M A MA Attarbaschi A A Bock C C Mann G G Haas O A OA Panzer-Grümayer R R

Leukemia 20150428 8

High hyperdiploidy defines the largest genetic entity of childhood acute lymphoblastic leukemia (ALL). Despite its relatively low recurrence risk, this subgroup generates a high proportion of relapses. The cause and origin of these relapses remains obscure. We therefore explored the mutational landscape in high hyperdiploid (HD) ALL with whole-exome (n=19) and subsequent targeted deep sequencing of 60 genes in 100 relapsing and 51 non-relapsing cases. We identified multiple clones at diagnosis t ...[more]

PMID: 25917266

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