Lynch syndrome is the most common type of genetically determined colon-cancer predisposition syndrome, accounting for 5%of all colorectal cancer (CRC) cases. This hereditary syndrome is characterized by the germline mutation of human mismatch repair genes and microsatellite instability. Recent studies have shown that Lynch syndrome and sporadic CRC differ in diagnosis and treat-ment;these results are especially relevant for the clinical management of Lynch syndrome. In this review, we reverted to the original characterization of Lynch syndrome, and the developments in its screening and diagnosis were summarized. Furthermore, the manage-ment of families with this disorder was discussed.