Genomic Evolution of Breast Cancer Metastasis and Relapse
Recurrent breast cancer is almost universally fatal. We characterize 170 patients locally relapsed or distant metastatic cancers using massively parallel sequencing. We identify that the relapse-seeding clone disseminates late from the primary tumor. TP53 and AKT1 appear to be enriched in ER-positive cancers predisposed to relapse. Mutation acquisition continues at relapse as the same mutation signatures continue to operate and new signatures, such as that caused by radiotherapy appear de novo. In 49% of cases we identify drivers mutations private to the relapse and these are sampled from a wider range of cancer genes, including SWI-SNF complex and JAK-STAT signaling.
- 26/09/2016
- 9 samples
- DAC: EGAC00001000010
- Technology: Illumina HiSeq 2000
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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001000211 | Cancer Genomics |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00000064319 | bam | 8.5 GB | ||
| EGAF00000064362 | bam | 7.2 GB | ||
| EGAF00000064386 | bam | 8.1 GB | ||
| EGAF00000064447 | bam | 7.2 GB | ||
| EGAF00000064523 | bam | 16.7 GB | ||
| EGAF00000064538 | bam | 8.7 GB | ||
| EGAF00000064541 | bam | 6.8 GB | ||
| EGAF00000064544 | bam | 7.9 GB | ||
| EGAF00000064570 | bam | 5.5 GB | ||
| EGAF00001332181 | bam | 15.2 GB | ||
| EGAF00001332182 | bam | 8.4 GB | ||
| 11 Files (100.2 GB) | ||||