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Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology

Authors
  • Cohen, Stacey A.
  • Pritchard, Colin C.
  • Jarvik, Gail P.
Type
Published Article
Journal
Annual Review of Genomics and Human Genetics
Publisher
Annual Reviews
Publication Date
Aug 31, 2019
Volume
20
Pages
293–307
Identifiers
DOI: 10.1146/annurev-genom-083118-015406
Source
Annual Reviews
Keywords
License
Yellow

Abstract

Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in the mismatch repair genes and is the most common etiology of hereditary colorectal cancer. While Lynch syndrome was initially defined by the clinical Amsterdam criteria, these criteria lack the sensitivity needed for clinical utility. This review covers the evolution of screening for Lynch syndrome from the use of tumor microsatellite instability and/or somatic alterations in mismatch repair protein expression by immunohistochemistry to the newest methods using next-generation sequencing. Additionally, it discusses the clinical implications of the diagnosis of Lynch syndrome as it affects cancer therapeutics and the role of screening in noncolorectal Lynch-associated cancers. As molecular oncology continues to evolve, it is crucial to remain current on the increasing complexity of Lynch syndrome diagnostics and treatment options.

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