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© 2004 Oxford University Press
COMMENTARY |
Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
Affiliations of authors: Division of Cancer Prevention (AU, ETH, SS), Center for Cancer Research (JCB), Division of Cancer Control and Population Sciences (ANF), National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD; Division of Gastroenterology, Baylor University Medical Center, Dallas, TX (CRB); Department of Medicine (JPT), Comprehensive Cancer Center and School of Medicine (RAH), University of California at San Francisco; Dana-Farber Cancer Institute, Boston MA (SS); Comprehensive Cancer Center, The Ohio State University, Columbus, OH (ADLC); Institute of Pathology, Klinikum Kassel, Kassel, Germany (JR); Genetics and Molecular Biology Program, Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA (RF); Mayo Clinic Rochester, Rochester, MN (NML, LJB); Institut National de la Santé et de la Recherche Médicale, Unit 434, Centre d'Etudes du Polymorphisme Humain, Paris, France (RH); The University of Texas M. D. Anderson Cancer Center, Houston, TX (SRH, MARB); Department of Pathology, McGill University, Montreal, Quebec Canada (JJ); Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Stockholm, Sweden (AL); Department of Preventive Medicine, Creighton University, Omaha, NE (HTL); Department of Medical Genetics, University of Helsinki, Helsinki, Finland (PP); Fred Hutchinson Cancer Research Center, Seattle, WA (SDR); Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands (HFAV).
Correspondence to: Asad Umar, DVM, PhD, Division of Cancer Prevention, National Cancer Institute, 6130 Executive Blvd., EPN 2141, Bethesda, MD 20892 (e-mail: asad.umar{at}nih.gov)
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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- Re: Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
- Luigi Laghi, Paolo Bianchi, Massimo Roncalli, and Alberto Malesci
J Natl Cancer Inst 2004 96: 1402-1403.[Extract] [Full Text] [PDF]
- RESPONSE: Re: Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
- Asad Umar
J Natl Cancer Inst 2004 96: 1403-1404.[Extract] [Full Text] [PDF]
- Re: Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability
- Finlay Macrae and Marion Harris
J Natl Cancer Inst 2005 97: 936-937.[Extract] [Full Text] [PDF]
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S. Demokan, Y. Suoglu, D. Demir, M. Gozeler, and N. Dalay Microsatellite instability and methylation of the DNA mismatch repair genes in head and neck cancer Ann. Onc., June 1, 2006; 17(6): 995 - 999. [Abstract] [Full Text] [PDF]
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H. Gorgens, S. Kruger, E. Kuhlisch, C. Pagenstecher, R. Hohl, H. K. Schackert, and A. Muller Microsatellite Stable Colorectal Cancers in Clinically Suspected Hereditary Nonpolyposis Colorectal Cancer Patients without Vertical Transmission of Disease Are Unlikely to Be Caused by Biallelic Germline Mutations in MYH J. Mol. Diagn., May 1, 2006; 8(2): 178 - 182. [Abstract] [Full Text] [PDF]
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S. Gill, N. M. Lindor, L. J. Burgart, R. Smalley, O. Leontovich, A. J. French, R. M. Goldberg, D. J. Sargent, J. R. Jass, J. L. Hopper, et al. Isolated Loss of PMS2 Expression in Colorectal Cancers: Frequency, Patient Age, and Familial Aggregation Clin. Cancer Res., September 15, 2005; 11(18): 6466 - 6471. [Abstract] [Full Text] [PDF]
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L. Ricciardiello, C. Ceccarelli, G. Angiolini, M. Pariali, P. Chieco, P. Paterini, G. Biasco, G. N. Martinelli, E. Roda, and F. Bazzoli High Thymidylate Synthase Expression in Colorectal Cancer with Microsatellite Instability: Implications for Chemotherapeutic Strategies Clin. Cancer Res., June 1, 2005; 11(11): 4234 - 4240. [Abstract] [Full Text] [PDF]
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