Study
Genome Landscape of High-Grade Serous Ovarian Cancer
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001000397 | Other |
Study Description
Patients with high-grade serous ovarian cancer (HGSC) have experienced little improvement in overall survival, and
standard treatment has not advanced beyond platinum-based combination chemotherapy, during the past 30 years. To
understand the drivers of clinical phenotypes better, here we use whole-genome sequencing of tumour and germline
DNA samples from 92 patients with primary refractory, resistant, sensitive and matched acquired resistant disease. We show that gene breakage commonly inactivates the tumour suppressors RB1, NF1, RAD51B and PTEN in HGSC, and contributes to acquired chemotherapy resistance. CCNE1 amplification was common in primary resistant and refractory
disease. We observed several molecular events associated with acquired resistance, including multiple independent
reversions of germline BRCA1 or BRCA2 mutations in individual patients, loss of BRCA1 promoter methylation, an
alteration in molecular subtype, and recurrent promoter fusion associated with overexpression of the drug efflux
pump MDR1.
Study Datasets 2 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 |
---|---|---|---|
EGAD00001000293 |
Sequencing data for Australian Ovarian Cancer study submitted 20121116
|
AB SOLiD 4 System | 72 |
EGAD00001000877 |
Complete WGS and RNA-Seq dataset for Australian ICGC ovarian cancer sequencing project 2014-07-07, representing 93 donors.
Sequencing was performed on Illumina HiSeq.
Alignment of the lane-level fastq data was performed with bwa (WGS data) and RSEM (transcriptome data).
For this dataset lane-level .bam files have been merged and de-duplicated to create a single bam file for each sample type (tumour/normal) for each donor.
This dataset supersedes all previous datasets for this study.
2016-08-08 ... (Show More)
|
331 |
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