Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk paediatric cancer

Study ID Alternative Stable ID Type
EGAS00001004572 Other

Study Description

Zero Childhood Cancer is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Utilising tumour and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumours from high-risk paediatric cancer patients, we identified 968 reportable molecular aberrations (39.9% in WGS and RNAseq, 35.1% WGS-only, 25.0% RNAseq-only). 93.7% of patients had at least one germline or somatic aberration, 71.4% had therapeutic targets and 5.2% had a change in diagnosis. WGS identified pathogenic cancer-predisposing variants in 16.2% of patients. In 76 CNS tumours, methylome analysis confirmed diagnosis in 71.1% and contributed to a change of diagnosis in two cases (2.6%). To date 43 patients have received a recommended therapy, 38 of whom could be evaluated. A small but encouraging proportion of 31% showed some evidence of clinical benefit. Comprehensive molecular profiling resolved the molecular basis of virtually all high-risk cancers, which in some cases has significant clinical impact.

Study Datasets 7 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
Bulk RNA-seq data of tumours in EGAS00001004572.
NextSeq 500 226
Bulk WGS fastq files for germline and tumours in EGAS00001004572.
HiSeq X Ten 482
Bulk GRIDSS somatic sv vcfs from tumour-normal analysis in EGAS00001004572
Bulk Strelka somatic snv vcfs from tumour-normal analysis in EGAS00001004572
Bulk copy number segments from Purple analysis in EGAS00001004572
Bulk methylation tumour profiles from infinium methylation epic bead kit in EGAS00001004572
Bulk Germline snv vcfs from haplotypecaller analysis in EGAS00001004572

Who archives the data?

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