A practical approach to the evaluation of gastrointestinal tract carcinomas for lynch syndrome

Rish Pai, Reetesh K. Pai

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Lynch syndrome accounts for roughly 1 of every 35 patients with colorectal carcinoma, making it the most common hereditary form of colorectal carcinoma. Identifying patients at risk for Lynch syndrome is essential, as these patients can develop additional Lynch syndrome-related tumors, and patients and their relatives benefit from genetic counseling. The hallmark of Lynch syndrome-associated neoplasms is DNA mismatch repair protein deficiency. In most instances, the pathologist is the first to identify patients at risk for Lynch syndrome and is tasked with communicating these results to treating clinicians and genetics counselors. This review will attempt to provide the tools for pathologists to identify patients at risk for Lynch syndrome through evaluation of tumors of the gastrointestinal tract and provide up-to-date knowledge on evaluating mismatch repair protein deficiency in tumors of the gastrointestinal tract.

Original languageEnglish (US)
Pages (from-to)e17-e34
JournalAmerican Journal of Surgical Pathology
Volume40
Issue number4
DOIs
StatePublished - Jan 1 2016

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Keywords

  • BRAF
  • Colorectal carcinoma
  • HNPCC
  • Immunohistochemistry
  • Lynch syndrome
  • Lynch-like syndrome
  • mismatch repair protein
  • MSI

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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