Decoding the Dark Matter of the High-Risk Paediatric Cancer Genome

Ongoing
Data
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CBTN Data Used

Backer

Cancer Australia Grant (2019-21): Decoding the Dark Matter of the High-Risk Paediatric Cancer Genome

About this

Project

Precision oncology relies on the identification of targetable driver mutations. However, based on our current coding-focused understanding of the cancer genome, many paediatric cancers seem to lack driver mutations entirely. We hypothesise that the apparent low rate of driver mutations in some paediatric cancers is due to present-day limitations in interpreting synonymous and noncoding variation (SNCV).

Ask The

Scientists

Ask the scientists

What are the goals of this project?

The goals of this project are to investigate the prevalence and functional impact of somatic SNCV on splicing, promoter activity, and enhancer hijacking and to investigate the prevalence and functional impact of genomic insertion of somatic mobile elements and viruses.

What is the impact of this project?

High-risk paediatric cancers have dismal survival rates, and despite best efforts using advanced DNA sequencing, we find very few mutations to explain this aggressiveness. We reasoned that whole classes of under-explored mutations in the "noncoding genome" may explain their poor outcomes, and we propose innovative ways to study these in the largest study of patients with these cancers to date.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas

Explore the data in these informatics portals

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