Hereditary cancer syndrome patients were born with a genetic change placing them at a high risk of cancer, with BRCA1/2 and Lynch Syndrome (LS) most common. Carriers of gene mutations undergo intensive medical testing for early detection, or may choose preventative removal of organs at risk of cancer. Importantly, some cancers cannot be detected early by screening. Surveillance and surgeries place a significant health, travel and financial burden on patients and families.

Our goal is to improve early cancer detection by developing a blood test to predict cancer development in carriers using circulating DNA. As carriers develop cancer, they may have pre-cancerous cells which release this DNA into the blood (cell-free DNA; cfDNA), which can be detected with novel genetic technologies. We propose to use three complementary cfDNA assays: shallow whole genome sequencing (sWGS), Liquid-Biopsy Sequencing (LB-Seq) and Cell-free Methylated DNA Immunoprecipitation and High-throughput Sequencing (cfMeDip-Seq) for early cancer detection. 

CHARM Consortium

The CHARM Consortium is made up of researchers and hereditary cancer specialists across Canada. The vision for the CHARM consortium is to revolutionize the management of hereditary cancer syndrome patients through earlier detection of all potential cancers using circulating tumour DNA analysis.

Funding Sources

Shar Foundation

FDC Foundation

The Devine/Sucharada Charitable Foundation