Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

Asad Umar, C. Richard Boland, Jonathan P. Terdiman, Sapna Syngal, Albert de la Chapelle, Josef Rüschoff, Richard Fishel, Noralene M. Lindor, Lawrence J. Burgart, Richard Hamelin, Stanley R. Hamilton, Robert A. Hiatt, Jeremy Jass, Anika Lindblom, Henry T. Lynch, Paivi Peltomaki, Scott D. Ramsey, Miguel A. Rodriguez-Bigas, Hans F.A. Vasen, Ernest T. HawkJ. Carl Barrett, Andrew N. Freedman, Sudhir Srivastava

Research output: Contribution to journalArticlepeer-review

2145 Scopus citations

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite instability (MSI). Because cancers with MSI account for approximately 15% of all colorectal cancers and because of the need for a better understanding of the clinical and histologic manifestations of HNPCC, the National Cancer Institute hosted an international workshop on HNPCC in 1996, which led to the development of the Bethesda Guidelines for the identification of individuals with HNPCC who should be tested for MSI. To consider revision and improvement of the Bethesda Guidelines, another HNPCC workshop was held at the National Cancer Institute in Bethesda, MD, in 2002. In this commentary, we summarize the Workshop presentations on HNPCC and MSI testing; present the issues relating to the performance, sensitivity, and specificity of the Bethesda Guidelines; outline the revised Bethesda Guidelines for identifying individuals at risk for HNPCC; and recommend criteria for MSI testing.

Original languageEnglish (US)
Pages (from-to)261-268
Number of pages8
JournalJournal of the National Cancer Institute
Volume96
Issue number4
DOIs
StatePublished - Feb 18 2004

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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