Primary organisation: QIMR Berghofer Medical Research Institute (QIMR Berghofer)
Principal Investigator: Dr Nic Waddell
Flagship requested: Hereditary cancers (ICCon)
Co-applicants: Professor Amanda Spurdle (QIMR Berghofer), A/Professor Paul James (Peter MacCallum Cancer Centre)
Approval date: March 2022
Applicant’s project summary:
Cancer is a genetic disease. Some individuals are genetically predisposed to cancer due to disease associated variants in their germline DNA. A well known example of this are pathogenic variants in the BRCA1 or BRCA2 genes that predispose carriers to breast cancer.
We will use DNA and RNA sequencing, as well as methylation profiling of germline and tumour samples from patients with and without familial cancer. This will reveal insights into the mechanisms of how tumours arise, identify oncogenic driving events, assist in a genetic diagnosis for individuals with familial cancer and suggest candidate therapeutic opportunities.