Updates in the Molecular Biology and Personalized Management of Lynch Syndrome

Lynch syndrome (LS) is a common hereditary cancer syndrome caused by pathogenic germline variants in one of the DNA mismatch repair genes. In the past few decades, advances in understanding the molecular basis of LS and LS-related tumorigenesis have led to the development and ongoing refinement of LS screening and diagnostic strategies. In parallel, the improved characterization and increased recognition of the wide phenotypic spectrum of LS have motivated the investigation of more tailored surveillance and prevention strategies for LS-related cancers. This article discusses progress in the understanding of LS and examines the evolving paradigms in genetic testing and surveillance.