Molecular landscape of Lynch syndrome-associated tumor spectrum (FinMMR)
18.06.2025
Molecular landscape of Lynch syndrome-associated tumor spectrum (FinMMR) Lynch syndrome (LS) is common hereditary syndrome with an increased risk of colorectal, endometrial, and a dozen of other LS-related cancers, and caused by inherited defects in mismatch repair genes. Utilizing data from the Lynch Syndrome Research Registry, we have identified 800 LS associated tumors from 15 organs, to be obtained through Finnish Biobank requests. Our research aims to determine the mismatch repair deficiency and analyze the immune profiles of these tumors to identify the prevalent frameshift mutations allowing development of LS-specific ctDNA screening tests and validation of the vaccine developed for cancer prevention in LS.
