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Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability Umar A; Boland CR; Terdiman JP; Syngal S; de la Chapelle A; Ruschoff J; Fishel R; Lindor NM; Burgart LJ; Hamelin R; Hamilton SR; Hiatt RA; Jass J; Lindblom A; Lynch HT; Peltomaki P; Ramsey SD; Rodriguez-Bigas MA; Vasen HF; Hawk ET; Barrett JC; Freedman AN; Srivastava SJ Natl Cancer Inst 2004[Feb]; 96 (4): 261-8Hereditary 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.|*Microsatellite Repeats[MESH]|*Mutation[MESH]|Adaptor Proteins, Signal Transducing[MESH]|Carrier Proteins[MESH]|Colorectal Neoplasms, Hereditary Nonpolyposis/*diagnosis/*genetics[MESH]|DNA Repair[MESH]|DNA-Binding Proteins/*genetics[MESH]|Genetic Predisposition to Disease[MESH]|Humans[MESH]|MutL Protein Homolog 1[MESH]|MutS Homolog 2 Protein[MESH]|Neoplasm Proteins/genetics[MESH]|Nuclear Proteins[MESH]|Polymerase Chain Reaction[MESH]|Practice Guidelines as Topic[MESH]|Proto-Oncogene Proteins/*genetics[MESH]|Sensitivity and Specificity[MESH]|United States[MESH] |
