Historical development of Lynch syndrome

Henry T. Lynch, Stephen J. Lanspa, Carrie L. Snyder, Trudy G. Shaw, Patrick M. Lynch

Research output: Chapter in Book/Report/Conference proceedingChapter


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.

Original languageEnglish (US)
Title of host publicationDNA Alterations in Lynch Syndrome
Subtitle of host publicationAdvances in Molecular Diagnosis and Genetic Counselling
PublisherSpringer Netherlands
Number of pages24
ISBN (Electronic)9789400765979
ISBN (Print)9400765967, 9789400765962
StatePublished - Feb 1 2013

All Science Journal Classification (ASJC) codes

  • Medicine(all)


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