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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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K. M. Murphy, S. Zhang, T. Geiger, M. J. Hafez, J. Bacher, K. D. Berg, and J. R. Eshleman Comparison of the Microsatellite Instability Analysis System and the Bethesda Panel for the Determination of Microsatellite Instability in Colorectal Cancers J. Mol. Diagn., July 1, 2006; 8(3): 305 - 311. [Abstract] [Full Text] [PDF]
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R. A. Barnetson, A. Tenesa, S. M. Farrington, I. D. Nicholl, R. Cetnarskyj, M. E. Porteous, H. Campbell, and M. G. Dunlop Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N. Engl. J. Med., June 29, 2006; 354(26): 2751 - 2763. [Abstract] [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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Y. F. Wong, T. H. Cheung, K. W. K. Lo, S. F. Yim, L. K. Y. Chan, O. Buhard, A. Duval, T. K. H. Chung, and R. Hamelin Detection of microsatellite instability in endometrial cancer: advantages of a panel of five mononucleotide repeats over the National Cancer Institute panel of markers Carcinogenesis, May 1, 2006; 27(5): 951 - 955. [Abstract] [Full Text] [PDF]
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V. Moreno, F. Gemignani, S. Landi, L. Gioia-Patricola, A. Chabrier, I. Blanco, S. Gonzalez, E. Guino, G. Capella, F. Canzian, et al. Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin. Cancer Res., April 1, 2006; 12(7): 2101 - 2108. [Abstract] [Full Text] [PDF]
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W. C. Taylor A 71-Year-Old Woman Contemplating a Screening Colonoscopy JAMA, March 8, 2006; 295(10): 1161 - 1167. [Full Text] [PDF]
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E. C. Chao and S. M. Lipkin Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis Nucleic Acids Res., February 6, 2006; 34(3): 840 - 852. [Abstract] [Full Text] [PDF]
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O. Buhard, F. Cattaneo, Y. F. Wong, S. F. Yim, E. Friedman, J.-F. Flejou, A. Duval, and R. Hamelin Multipopulation Analysis of Polymorphisms in Five Mononucleotide Repeats Used to Determine the Microsatellite Instability Status of Human Tumors J. Clin. Oncol., January 10, 2006; 24(2): 241 - 251. [Abstract] [Full Text] [PDF]
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P. T. Soliman, R. R. Broaddus, K. M. Schmeler, M. S. Daniels, D. Gonzalez, B. M. Slomovitz, D. M. Gershenson, and K. H. Lu Women With Synchronous Primary Cancers of the Endometrium and Ovary: Do They Have Lynch Syndrome? J. Clin. Oncol., December 20, 2005; 23(36): 9344 - 9350. [Abstract] [Full Text] [PDF]
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A. O. Chan, A. S. Soliman, Q. Zhang, A. Rashid, A. Bedeir, P. S. Houlihan, N. Mokhtar, N. Al-Masri, U. Ozbek, R. Yaghan, et al. Differing DNA Methylation Patterns and Gene Mutation Frequencies in Colorectal Carcinomas from Middle Eastern Countries Clin. Cancer Res., December 1, 2005; 11(23): 8281 - 8287. [Abstract] [Full Text] [PDF]
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S. D. Ramsey, W. Burke, L. Pinsky, L. Clarke, P. Newcomb, and M. J. Khoury Family History Assessment to Detect Increased Risk for Colorectal Cancer: Conceptual Considerations and a Preliminary Economic Analysis Cancer Epidemiol. Biomarkers Prev., November 1, 2005; 14(11): 2494 - 2500. [Abstract] [Full Text] [PDF]
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X. Llor, E. Pons, R. M. Xicola, A. Castells, C. Alenda, V. Pinol, M. Andreu, S. Castellvi-Bel, A. Paya, R. Jover, et al. Differential Features of Colorectal Cancers Fulfilling Amsterdam Criteria without Involvement of the Mutator Pathway Clin. Cancer Res., October 15, 2005; 11(20): 7304 - 7310. [Abstract] [Full Text] [PDF]
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B. Pasche, T. J. Knobloch, Y. Bian, J. Liu, S. Phukan, D. Rosman, V. Kaklamani, L. Baddi, F. S. Siddiqui, W. Frankel, et al. Somatic Acquisition and Signaling of TGFBR1*6A in Cancer JAMA, October 5, 2005; 294(13): 1634 - 1646. [Abstract] [Full Text] [PDF]
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J. Bacani, R. Zwingerman, N. Di Nicola, S. Spencer, T. Wegrynowski, K. Mitchell, K. Hay, M. Redston, E. Holowaty, D. Huntsman, et al. Tumor Microsatellite Instability in Early Onset Gastric Cancer J. Mol. Diagn., October 1, 2005; 7(4): 465 - 477. [Abstract] [Full Text] [PDF]
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M. O. Woods, A. J. Hyde, F. K. Curtis, S. Stuckless, J. S. Green, A. F. Pollett, J. D. Robb, R. C. Green, M. E. Croitoru, A. Careen, et al. High Frequency of Hereditary Colorectal Cancer in Newfoundland Likely Involves Novel Susceptibility Genes Clin. Cancer Res., October 1, 2005; 11(19): 6853 - 6861. [Abstract] [Full Text] [PDF]
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V Johnson, L R Lipton, C Cummings, A T Eftekhar Sadat, L Izatt, S V Hodgson, I C Talbot, H J W Thomas, A J R Silver, and I P M Tomlinson Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families J. Med. Genet., October 1, 2005; 42(10): 756 - 762. [Abstract] [Full Text] [PDF]
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M. C. Southey, M. A. Jenkins, L. Mead, J. Whitty, M. Trivett, A. A. Tesoriero, L. D. Smith, K. Jennings, G. Grubb, S. G. Royce, et al. Use of Molecular Tumor Characteristics to Prioritize Mismatch Repair Gene Testing in Early-Onset Colorectal Cancer J. Clin. Oncol., September 20, 2005; 23(27): 6524 - 6532. [Abstract] [Full Text] [PDF]
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P. Findeisen, M. Kloor, S. Merx, C. Sutter, S. M. Woerner, N. Dostmann, A. Benner, B. Dondog, M. Pawlita, W. Dippold, et al. T25 Repeat in the 3' Untranslated Region of the CASP2 Gene: A Sensitive and Specific Marker for Microsatellite Instability in Colorectal Cancer Cancer Res., September 15, 2005; 65(18): 8072 - 8078. [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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S. D. Ramsey, H. Hampel, A. de la Chapelle, and W.C. Benton Screening for the Lynch Syndrome N. Engl. J. Med., August 4, 2005; 353(5): 524 - 525. [Full Text] [PDF]
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J. Boyd Genetic Basis of Familial Endometrial Cancer: Is There More to Learn? J. Clin. Oncol., July 20, 2005; 23(21): 4570 - 4573. [Full Text] [PDF]
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A. Umar RESPONSE: Re: Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability J Natl Cancer Inst, June 15, 2005; 97(12): 937 - 938. [Full Text] [PDF]
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F. Macrae and M. Harris Re: Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability J Natl Cancer Inst, June 15, 2005; 97(12): 936 - 937. [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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H. Hampel, W. L. Frankel, E. Martin, M. Arnold, K. Khanduja, P. Kuebler, H. Nakagawa, K. Sotamaa, T. W. Prior, J. Westman, et al. Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) N. Engl. J. Med., May 5, 2005; 352(18): 1851 - 1860. [Abstract] [Full Text] [PDF]
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Y. Bian, T. Caldes, J. Wijnen, P. Franken, H. Vasen, V. Kaklamani, K. Nafa, P. Peterlongo, N. Ellis, J. A. Baron, et al. TGFBR1{star}6A May Contribute to Hereditary Colorectal Cancer J. Clin. Oncol., May 1, 2005; 23(13): 3074 - 3078. [Abstract] [Full Text] [PDF]
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G. Giuffre, A. Muller, T. Brodegger, T. Bocker-Edmonston, J. Gebert, M. Kloor, W. Dietmaier, F. Kullmann, R. Buttner, G. Tuccari, et al. Microsatellite Analysis of Hereditary Nonpolyposis Colorectal Cancer-Associated Colorectal Adenomas by Laser-Assisted Microdissection: Correlation with Mismatch Repair Protein Expression Provides New Insights in Early Steps of Tumorigenesis J. Mol. Diagn., May 1, 2005; 7(2): 160 - 170. [Abstract] [Full Text] [PDF]
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V. Pinol, A. Castells, M. Andreu, S. Castellvi-Bel, C. Alenda, X. Llor, R. M. Xicola, F. Rodriguez-Moranta, A. Paya, R. Jover, et al. Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer JAMA, April 27, 2005; 293(16): 1986 - 1994. [Abstract] [Full Text] [PDF]
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H. F. A. Vasen and C. R. Boland Progress in Genetic Testing, Classification, and Identification of Lynch Syndrome JAMA, April 27, 2005; 293(16): 2028 - 2030. [Full Text] [PDF]
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N. Entz-Werle, L. Marcellin, M.-P. Gaub, E. Guerin, A. Schneider, P. Berard-Marec, C. Kalifa, L. Brugiere, H. Pacquement, C. Schmitt, et al. Prognostic Significance of Allelic Imbalance at the c-kit Gene Locus and c-kit Overexpression by Immunohistochemistry in Pediatric Osteosarcomas J. Clin. Oncol., April 1, 2005; 23(10): 2248 - 2255. [Abstract] [Full Text] [PDF]
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P Vahteristo, S Ojala, A Tamminen, J Tommiska, H Sammalkorpi, S Kiuru-Kuhlefelt, H Eerola, L A Aaltonen, K Aittomaki, and H Nevanlinna No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer J. Med. Genet., April 1, 2005; 42(4): e22 - e22. [Abstract] [Full Text] [PDF]
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