Mismatch repair gone awry: Management of Lynch syndrome

Tian Zhang, Elizabeth L. Boswell, Shannon J. McCall, David S. Hsu

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

Abstract

The hallmark of Lynch syndrome involves germline mutations of genes important in DNA mismatch repair. Affected family kindreds will have multiple associated malignancies, the most common of which is colorectal adenocarcinoma. Recently, evidence has shown that clinical diagnostic criteria provided by the Amsterdam Criteria and the Bethesda Guidelines must be linked with microsatellite instability testing to correctly diagnose Lynch syndrome. We present a case of metachronous colorectal adenocarcinomas in a patient less than 50 years of age, followed by a discussion of Lynch syndrome, with an emphasis on surveillance and prevention of malignancies.

Original languageEnglish (US)
Pages (from-to)170-179
Number of pages10
JournalCritical Reviews in Oncology/Hematology
Volume93
Issue number3
DOIs
StatePublished - Mar 1 2015
Externally publishedYes

Keywords

  • Colorectal cancer
  • Hereditary gastrointestinal malignancies
  • Lynch syndrome
  • Microsatellite instability
  • Mismatch repair

ASJC Scopus subject areas

  • Hematology
  • Oncology

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