We are interested in developing assays to improve the early detection and surveillance of cancer in individuals with a hereditary cancer syndrome.
Individuals with a hereditary cancer syndrome undergo intensive medical testing for early detection, or may choose preventative removal of organs at risk of cancer. Surveillance and surgeries place a significant health, travel and financial burden on patients and families. Still, some cancers cannot be detected early by screening. Our goal is to improve early cancer detection by developing a blood test to predict cancer development in carriers using circulating DNA. To accomplish this goal we have established the CHARM Consortium, a national network of clinicians and scientists across Canada recruiting and developing cfDNA assays to improve cancer detection in individuals with a hereditary cancer syndrome. The CHARM consortium currently focuses on test development in patients with hereditary breast and ovarian cancer syndrome, Lynch syndrome, NF1, or Li-Fraumeni syndrome.
Clinical testing for mismatch repair (MMR) deficiency often entails serial testing of tumour and constitutional DNA using multiple assays. To minimize cost and specimen requirements of MMR testing, we developed an integrated targeted sequencing protocol (termed MultiMMR) that tests for promoter methylation, mutations, copy number alterations, copy neutral loss-of-heterozygosity, and microsatellite instability from a single aliquot of DNA. This panel is able to amalgamate the current stepwise and complex clinical testing workflow into an integrated test for both hereditary and somatic causes of MMR deficiency.