Diagnosetester for påvisning av kreftrelaterte mutasjoner i blodprøver

Offentlig prosjektsammendrag

Novel proprietary diagnostic tests for early detection of biomarkers of cancer in the blood are developed. Frameshift mutation is a hallmark of micro satellite instability (MSI) in cancer. Presence of frameshift cell free DNA in the blood constitutes biomarkers of MSI cancer. The tests provide simple methods for surveillance of cancer in high-risk population Lynch Syndrome (hereditary cancer) and in patients at risk of recurrence after surgery. Early detection enables early treatment (immunotherapy) and potentially improved outcome of treatment. MSI are known across many types of cancer types, particularly in colorectal cancer (15%), stomach cancer (22%) and endometrial cancer (28%). Over 90% of patients with hereditary colon cancer are MSI. Mutation profiles varies and a panel of four target frameshifts has been selected to secure general coverage: TGFbR2, ACVR, TAF1B and ASTE1 frameshifts. The tests are based on proprietary designed primers for use in PCR set ups.