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Title: DNA-seq of exome sequences from tumor cells and T-lymphocytes in 24 chronic lymphocytic leukemia patients to predict somatic mutations in 24 CLL patients (17 IGHV-unmutated and 7 IGHV-mutated)      
dateReleased:
01-12-2015
description:
Chronic lymphocytic leukemia (CLL), the most frequent adult leukemia in western countries, is a clonal accumulation of mature B-lymphocytes and its natural history is yet unclear. By using sequencing and cellular biology approaches on a cohort of CLL patient samples, we show here that acquired CLL mutations are observed in hematopoietic multipotent progenitor fractions in the majority of patients. These early CLL mutations include recurrent inactivating mutations in NFKBIE (10.7%) and missense mutations in BRAF (3.6%) and EGR2 (8.3%). Functional analyses demonstrated that BRAF-G469R affects lymphoid differentiation and transforms the T-cell lineage in vivo. In addition, the EGR2 recurrent mutations were associated with transcriptional activation of EGR2 target genes in patients and cell cycle abnormality in cellular model. Our findings indicate that CLL may develop from an initial infra-clinic, pre-leukemic phase affecting immature hematopoietic cells. The aim of this study is to compare exome sequences from tumor cells and T-lymphocytes in order to predict somatic mutations in 24 CLL patients (17 IGHV-unmutated and 7 IGHV-mutated). Enriched exome fragments were subjected to massively parallel sequencing using HiSeq 2000 (Illumina).
privacy:
not applicable
aggregation:
instance of dataset
ID:
E-MTAB-1775
refinement:
raw
keywords:
functional genomics
dateModified:
11-17-2014
availability:
available
types:
gene expression
name:
Homo sapiens
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-MTAB-1775/E-MTAB-1775.raw.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-MTAB-1775/E-MTAB-1775.processed.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
abbreviation:
EBI
homePage: http://www.ebi.ac.uk/
ID:
SCR:004727
name:
European Bioinformatics Institute
homePage: https://www.ebi.ac.uk/arrayexpress/
ID:
SCR:002964
name:
ArrayExpress

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