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Lynch Syndrome

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Hereditary Colorectal Cancer

Abstract

Lynch syndrome is a highly penetrant hereditary cancer syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, PMS2, and EPCAM. Historically identified on the basis of family history of colorectal and endometrial cancers exhibiting autosomal dominant inheritance, universal screening of CRCs and endometrial cancers for features of MMR deficiency, together with cascade genetic testing in families, is at present the most effective approach for identifying individuals with Lynch syndrome. Here we review the history of Lynch syndrome, as well as the clinical and molecular investigations that have contributed to our understanding of Lynch syndrome and informed current approaches to diagnosis and clinical management.

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Authors and Affiliations

  1. Division of Gastroenterology, University of Michigan, Ann Arbor, MI, USA

    Elena M. Stoffel

  2. Dana-Farber Cancer Institute, Brigham & Women’s Hospital and Harvard Medical School, Boston, MA, USA

    Matthew B. Yurgelun

  3. Division of Gastroenterology, UCSD School of Medicine, University of California, San Diego, CA, USA

    C. Richard Boland

Authors
  1. Elena M. Stoffel
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  2. Matthew B. Yurgelun
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  3. C. Richard Boland
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Corresponding authors

Correspondence to Elena M. Stoffel or C. Richard Boland .

Editor information

Editors and Affiliations

  1. Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona, Spain

    Laura Valle

  2. University of Southern California, Norris Comprehensive Cancer Center, Los Angeles, California, USA

    Stephen B. Gruber

  3. Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL and CIBERONC, Hospitalet de Llobregat, Barcelona, Spain

    Gabriel Capellá

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Stoffel, E.M., Yurgelun, M.B., Boland, C.R. (2018). Lynch Syndrome. In: Valle, L., Gruber, S., Capellá, G. (eds) Hereditary Colorectal Cancer. Springer, Cham. https://doi.org/10.1007/978-3-319-74259-5_1

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