Generating solutions

Mutations in the mismatch repair or DNA polymerase genes lead to replication repair deficiency (RRD), a major cancer mechanism leading to genomic instability, microsatellite instability (MSI) and hypermutagenesis (high tumour mutation burden). RRD is a frequent driver of highly prevalent cancers such as colon, stomach, pancreatic, endometrial, and ovarian in adults, and brain and hematologic in children. There is a need to accurately identify patients with RRD as they are often resistant to chemotherapy but exquisitely sensitive to targeted and immuno-therapies; and have cancer predisposition syndromes so they, and their families, need surveillance. Current screening methods are time consuming, costly, and miss patients due to lack of sensitivity and specificity. This project will develop a sensitive and specific, cost-effective diagnostic tool for clinical RRD testing through a clinically validated lowpass genomic instability characterization diagnostic (LOGIC) assay. Benefits include savings to the health care system as well as potential revenue through the licence of this test to others both nationally and internationally.