Historical development of Lynch syndrome

One hundred years have passed since Aldred Warthin published the first report of a family with the combination of nonpolyposis colorectal cancer and extracolonic cancers that is now recognized as Lynch syndrome. His work from 1913 was rediscovered in the 1960s, when more families with the syndrome, then called cancer family syndrome, were recognized. In the 1990s, causal mutations were identified in mismatch repair genes; this led to greater scientific acceptance of the disorder, as well as to the ability to determine which family members were at increased cancer risk and thereby in need of rigorous surveillance and management strategies. Since that time, our knowledge of the syndrome, albeit still incomplete, has continued to increase. However, a great deal of work still needs to be done in order to realize the potential of translation of this knowledge to clinical use.