Study
METABRIC
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00000000083 | Genotype/Expression |
Study Description
The elucidation of breast cancer subgroups and their molecular drivers
requires integrated views of the genome and transcriptome from
representative numbers of patients. We present an integrated analysis of
copy number and gene expression in a discovery and validation
set of 997 and 995 primary breast tumours, respectively, with long-term
clinical follow-up. Inherited variants (CNVs, SNPs) and acquired somatic
copy number aberrations (CNAs) were associated with expression in 40% of
genes, although the landscape was dominated by cis and trans-acting CNAs. By
delineating expression outlier genes driven in cis by CNAs, we identified
putative cancer genes, including deletions in PPP2R2A, MTAP, and MAP2K4.
Unsupervised analysis of paired DNA/RNA profiles revealed novel subgroups
with distinct clinical outcomes, which reproduced in the validation cohort.
These include a high-risk, ER-positive 11q13/14 cis-acting subgroup and a
favourable prognosis subgroup devoid of CNAs. Trans-acting aberration
0152hotspots were found to modulate subgroup-specific gene networks, including
a TCR ... (Show More)
Study Datasets 10 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00010000162 |
Illumina HT 12 IDATS
|
Illumina HT 12 | 2136 |
EGAD00010000164 |
Affymetrix 6.0 CEL files
|
Affymetrix SNP 6.0 | 1992 |
EGAD00010000210 |
Normalized expression data; discovery set
|
Illumina HT 12 | 997 |
EGAD00010000211 |
Normalized expression data; validation set
|
Illumina HT 12 | 995 |
EGAD00010000212 |
Normalized expression data; normals
|
Illumina HT 12 | 144 |
EGAD00010000213 |
Segmented (CBS) copy number aberrations (CNA); discovery set
|
Affymetrix SNP 6.0 | 997 |
EGAD00010000214 |
Segmented (CBS) copy number variants (CNV); discovery set
|
Affymetrix SNP 6.0 | 997 |
EGAD00010000215 |
Segmented (CBS) copy number aberrations (CNA); validation set
|
Affymetrix SNP 6.0 | 995 |
EGAD00010000216 |
Segmented (CBS) copy number variants (CNV); validation set
|
Affymetrix SNP 6.0 | 995 |
EGAD00010000217 |
Segmented (HMM) copy number aberrations (CNA); discovery set
|
Affymetrix SNP 6.0 | 997 |
Who archives the data?

Publications
Citations
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