Study

The clonal and mutational evolution spectrum of primary triple negative breast cancers

Study ID Alternative Stable ID Type
EGAS00001000132 Exome Sequencing

Study Description

Primary triple negative breast cancers (TNBC) represent approximately 16% of all breast cancers and are a tumour type defined by exclusion,for which comprehensive landscapes of somatic mutation have not been determined. Here we show in 104 early TNBC cases, that at the time of diagnosis these cancers exhibit a wide and continuous spectrum of genomic evolution, with some exhibiting only a handful of somatic aberrations in a few pathways, whereas others contain hundreds of somatic events and multiple pathways implicated. Integration with matched whole transcriptome sequence data revealed that only 36% of mutations are expressed. By examining single nucleotide variant (SNV) allelic abundance derived from deep re-sequencing (median > 20,000 fold) measurements in 2414 somatic mutations, we determine for the first time in an epithelial tumour, the relative abundance of clonal genotypes among cases in the population. We show that TNBC vary widely and continuously in their clonal frequencies at the time of diagnosis, with basal subtype TNBC exhibiting more variation than non-basal TNBC. ... (Show More)

Study Datasets 4 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
EGAD00001000113
Mutational landscapes of primary triple negative breast cancers - Exomes
Illumina Genome Analyzer IIx 108
EGAD00001000115
Mutational landscapes of primary triple negative breast cancers - WGS
ABI_SOLID 32
EGAD00001000132
Mutational landscapes of primary triple negative breast cancers - RNA seq
Illumina Genome Analyzer IIx 80
EGAD00010000148
tumour samples using Affymetrix Genome-Wide SNP6.0 arrays
Affymetrix_GenomeWide_SNP6.34 104

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