Pathology of the Gastrointestinal Tract

2017 Edition
| Editors: Fátima Carneiro, Paula Chaves, Arzu Ensari

Lynch Syndrome

  • Armagan GunalEmail author
Reference work entry


Hereditary mismatch repair deficiency syndrome; Hereditary nonpolyposis colorectal cancer (HNPCC) syndrome (see the “Definition”)


Lynch syndrome is a hereditary cancer syndrome caused by the germline mutations in DNA mismatch repair (MMR) genes and characterized by an increased risk of colorectal carcinoma and extracolonic cancers.

Historically, this syndrome has been defined as a “probable hereditary cancer syndrome” by A. S. Warthin and H. T. Lynch in the same family in which the members had cancers (predominantly colorectal cancers in the absence of overt polyposis). Compatible with these features, this syndrome has been named and known as “Hereditary nonpolyposis colorectal cancer (HNPCC) syndrome” for years until 1990s. Clinical criteria known as “Amsterdam criteria” have been developed to define these cases. Based on the presence of the germline mutations in MMR genes (see the “Molecular Features”), which have been defined as the cause of at least half of...

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References and Further Reading

  1. Geiersbach, K. B., & Samowitz, W. S. (2011). Microsatellite instability and colorectal cancer. Archives of Pathology and Laboratory Medicine, 135, 1269–1277.CrossRefGoogle Scholar
  2. Peltomaki, P., Offerhaus, G. J. A., & Vasen, H. F. A. (2010). Lynch syndrome. In F. T. Bosman, F. Carneiro, R. H. Hruban, & N. D. Theise (Eds.), WHO classification of tumours of the digestive system (pp. 152–155). Lyon: IARC.Google Scholar
  3. Redston, M., & Driman, D. K. (2015). Epithelial neoplasms of the large intestine. In R. D. Odze & J. R. Goldblum (Eds.), Surgical pathology of the GI tract, liver, biliary tract and pancreas (pp. 737–778). Philadelphia: Elsevier.Google Scholar
  4. Samowitz, W. S. (2015). Evaluation of colorectal cancers for Lynch syndrome: Practical molecular diagnostic for surgical pathologists. Modern Pathology, 28, 109–113.CrossRefGoogle Scholar
  5. Schneider, R., Schneider, C., Kloor, M., Fürst, A., & Möslein, G. (2012). Lynch syndrome: Clinical, pathological, and genetic insights. Langenbeck’s Archives of Surgery, 397, 513–525.CrossRefGoogle Scholar
  6. Setaffy, L., & Langner, C. (2015). Microsatellite instability in colon cancer: Clinicopathological significance. Polish Journal of Pathology, 66, 203–218.CrossRefGoogle Scholar
  7. Shia, J., Holck, S., DePetris, G., Greenson, J. K., & Klimstra, D. S. (2013). Lynch syndrome-associated neoplasms: A discussion on histopathology and immunohistochemistry. Familial Cancer, 12, 241–260.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Department of PathologyGulhane Military Medical AcademyEtlik, AnkaraTurkey