Recipent: Dr Bhavna Padhye
Institute: Children's Cancer Research Unit, The Children's Hospital at Westmead.
The Kids' Cancer Proejct Funding: $91,000 August 2023 to August 2024
Perpetual Funding: $91,100
Comprehensive analysis of gene changes in childhood cancer patients and their parents to identify the “culprit” that led to the child’s cancer development
Identification of cancer-predisposing germline variants in childhood cancer patients is important for therapeutic decisions, disease surveillance and risk assessment.
Uncovering novel genes/variants/mechanisms that predispose to cancer development can help identify germline abnormalities in more childhood cancer patients. With advancements of next generation sequencing technologies in the last few years, the project is now able to investigate germline DNA changes at unprecedented scales. Being part of the ongoing project “PREDICT” study, we sit in an advantageous position to analyse a collection of Whole Genome Sequencing data from all newly diagnosed childhood cancer patients and their parents (trio-based) in NSW.
This will allow us to investigate the trio WGS data against a large panel of cancer-associated genes, not only in the protein-coding regions but also less explored genomic areas including intronic regions, which could lead to successful discovery of novel candidate cancer predisposition genes/variants. The findings will contribute to expanding current understanding of cancer predisposition and leading to development of appropriate clinical testing and surveillance program, to identify patient/family at-risk and to facilitate early detection and prevention of cancer.