Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability

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.

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Affiliated Institutions

• Thomas Jefferson University US
• Baylor University Medical Center US
• Mayo Clinic US
• Klinikum Kassel DE
• Fred Hutch Cancer Center US
• The University of Texas Health Science Center at Houston US
• Creighton University US
• The Ohio State University US
• University of Helsinki FI
• Dana-Farber Cancer Institute US
• McGill University CA
• Smiths Detection (Canada) CA
• University of California, San Francisco US
• Institut National de Recherche en Santé Publique ML
• Karolinska Institutet SE
• National Institutes of Health US

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