© 1997 by Oxford University Press
A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines
MA Rodriguez-Bigas, CR Boland, SR Hamilton, DE Henson, JR Jass, PM Khan, H Lynch, M Perucho, T Smyrk, L Sobin, and S Srivastava
| You have reached the most complete version of this article accessible without further authentication.
More complete versions are available. Link to article |
This article has been cited by other articles:
![]() |
L. Zhang Immunohistochemistry versus Microsatellite Instability Testing for Screening Colorectal Cancer Patients at Risk for Hereditary Nonpolyposis Colorectal Cancer Syndrome: Part II. The Utility of Microsatellite Instability Testing J. Mol. Diagn., July 1, 2008; 10(4): 301 - 307. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. Imai and H. Yamamoto Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics Carcinogenesis, April 1, 2008; 29(4): 673 - 680. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. D. Walsh, M. C. Cummings, D. D. Buchanan, W. M. Dambacher, S. Arnold, D. McKeone, R. Byrnes, M. A. Barker, B. A. Leggett, M. Gattas, et al. Molecular, Pathologic, and Clinical Features of Early-Onset Endometrial Cancer: Identifying Presumptive Lynch Syndrome Patients Clin. Cancer Res., March 15, 2008; 14(6): 1692 - 1700. [Abstract] [Full Text] [PDF] |
||||
![]() |
L. A Devlin and P. J Morrison Inherited gynaecological cancer syndromes Obstet Gynaecol (Lond), January 1, 2008; 10(1): 9 - 15. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. D. Kauff How Should Women With Early-Onset Endometrial Cancer Be Evaluated for Lynch Syndrome? J. Clin. Oncol., November 20, 2007; 25(33): 5143 - 5146. [Full Text] [PDF] |
||||
![]() |
A. Sanchez-de-Abajo, M. de la Hoya, M. van Puijenbroek, A. Tosar, J.A. Lopez-Asenjo, E. Diaz-Rubio, H. Morreau, and T. Caldes Molecular Analysis of Colorectal Cancer Tumors from Patients with Mismatch Repair Proficient Hereditary Nonpolyposis Colorectal Cancer Suggests Novel Carcinogenic Pathways Clin. Cancer Res., October 1, 2007; 13(19): 5729 - 5735. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. Khilko, P. Bourne, Qi Yang, and Ping Tang Mismatch Repair Genes hMLH1 and hMSH2 May Not Play an Essential Role in Breast Carcinogenesis International Journal of Surgical Pathology, July 1, 2007; 15(3): 233 - 241. [Abstract] [PDF] |
||||
![]() |
H F A Vasen, G Moslein, A Alonso, I Bernstein, L Bertario, I Blanco, J Burn, G Capella, C Engel, I Frayling, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) J. Med. Genet., June 1, 2007; 44(6): 353 - 362. [Abstract] [Full Text] [PDF] |
||||
![]() |
L. Valle, J. Perea, P. Carbonell, V. Fernandez, A. M. Dotor, J. Benitez, and M. Urioste Clinicopathologic and Pedigree Differences in Amsterdam I-Positive Hereditary Nonpolyposis Colorectal Cancer Families According to Tumor Microsatellite Instability Status J. Clin. Oncol., March 1, 2007; 25(7): 781 - 786. [Abstract] [Full Text] [PDF] |
||||
![]() |
H. T. Lynch, J. F. Lynch, and P. M. Lynch Toward a Consensus in Molecular Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) J Natl Cancer Inst, February 21, 2007; 99(4): 261 - 263. [Full Text] [PDF] |
||||
![]() |
R C Niessen, M J W Berends, Y Wu, R H Sijmons, H Hollema, M J L Ligtenberg, H E K de Walle, E G E de Vries, A Karrenbeld, C H C M Buys, et al. Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer Gut, December 1, 2006; 55(12): 1781 - 1788. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. G. Guillem, W. C. Wood, J. F. Moley, A. Berchuck, B. Y. Karlan, D. G. Mutch, R. F. Gagel, J. Weitzel, M. Morrow, B. L. Weber, et al. ASCO/SSO Review of Current Role of Risk-Reducing Surgery in Common Hereditary Cancer Syndromes J. Clin. Oncol., October 1, 2006; 24(28): 4642 - 4660. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. G. Guillem, W. C. Wood, J. F. Moley, A. Berchuck, B. Y. Karlan, D. G. Mutch, R. F. Gagel, J. Weitzel, M. Morrow, B. L. Weber, et al. ASCO/SSO Review of Current Role of Risk-Reducing Surgery in Common Hereditary Cancer Syndromes Ann. Surg. Oncol., October 1, 2006; 13(10): 1296 - 1321. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Balmana, D. H. Stockwell, E. W. Steyerberg, E. M. Stoffel, A. M. Deffenbaugh, J. E. Reid, B. Ward, T. Scholl, B. Hendrickson, J. Tazelaar, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA, September 27, 2006; 296(12): 1469 - 1478. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. Chen, W. Wang, S. Lee, K. Nafa, J. Lee, K. Romans, P. Watson, S. B. Gruber, D. Euhus, K. W. Kinzler, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA, September 27, 2006; 296(12): 1479 - 1487. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. M. Ford and A. S. Whittemore Predicting and preventing hereditary colorectal cancer. JAMA, September 27, 2006; 296(12): 1521 - 1523. [Full Text] [PDF] |
||||
![]() |
T. Goecke, K. Schulmann, C. Engel, E. Holinski-Feder, C. Pagenstecher, H. K. Schackert, M. Kloor, E. Kunstmann, H. Vogelsang, G. Keller, et al. Genotype-Phenotype Comparison of German MLH1 and MSH2 Mutation Carriers Clinically Affected With Lynch Syndrome: A Report by the German HNPCC Consortium J. Clin. Oncol., September 10, 2006; 24(26): 4285 - 4292. [Abstract] [Full Text] [PDF] |
||||
![]() |
H. Hampel, W. Frankel, J. Panescu, J. Lockman, K. Sotamaa, D. Fix, I. Comeras, J. La Jeunesse, H. Nakagawa, J. A. Westman, et al. Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. Cancer Res., August 1, 2006; 66(15): 7810 - 7817. [Abstract] [Full Text] [PDF] |
||||
![]() |
Y. M.C. Hendriks, A. E. de Jong, H. Morreau, C. M.J. Tops, H. F. Vasen, J. Th. Wijnen, M. H. Breuning, and A. H.J.T. Brocker-Vriends Diagnostic Approach and Management of Lynch Syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): A Guide for Clinicians CA Cancer J Clin, July 1, 2006; 56(4): 213 - 225. [Abstract] [Full Text] [PDF] |
||||
![]() |
G. Lanza, R. Gafa, A. Santini, I. Maestri, L. Guerzoni, and L. Cavazzini Immunohistochemical Test for MLH1 and MSH2 Expression Predicts Clinical Outcome in Stage II and III Colorectal Cancer Patients J. Clin. Oncol., May 20, 2006; 24(15): 2359 - 2367. [Abstract] [Full Text] [PDF] |
||||
![]() |
F. Leone, G. Cavalloni, Y. Pignochino, I. Sarotto, R. Ferraris, W. Piacibello, T. Venesio, L. Capussotti, M. Risio, and M. Aglietta Somatic mutations of epidermal growth factor receptor in bile duct and gallbladder carcinoma. Clin. Cancer Res., March 15, 2006; 12(6): 1680 - 1685. [Abstract] [Full Text] [PDF] |
||||
![]() |
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] |
||||
![]() |
S Kruger, A Bier, C Engel, E Mangold, C Pagenstecher, M von Knebel Doeberitz, E Holinski-Feder, G Moeslein, K Schulmann, J Plaschke, et al. The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC) J. Med. Genet., October 1, 2005; 42(10): 769 - 773. [Abstract] [Full Text] [PDF] |
||||
![]() |
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] |
||||
![]() |
A. T. Stormorken, I. M. Bowitz-Lothe, T. Noren, E. Kure, S. Aase, J. Wijnen, J. Apold, K. Heimdal, and P. Moller Immunohistochemistry Identifies Carriers of Mismatch Repair Gene Defects Causing Hereditary Nonpolyposis Colorectal Cancer J. Clin. Oncol., July 20, 2005; 23(21): 4705 - 4712. [Abstract] [Full Text] [PDF] |
||||
![]() |
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] |
||||
![]() |
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] |
||||
![]() |
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] |
||||
![]() |
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] |
||||
![]() |
P. T. Soliman, J. C. Oh, K. M. Schmeler, C. C. Sun, B. M. Slomovitz, D. M. Gershenson, T. W. Burke, and K. H. Lu Risk Factors for Young Premenopausal Women With Endometrial Cancer Obstet. Gynecol., March 1, 2005; 105(3): 575 - 580. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Garber and K. Offit Hereditary Cancer Predisposition Syndromes J. Clin. Oncol., January 10, 2005; 23(2): 276 - 292. [Abstract] [Full Text] [PDF] |
||||
![]() |
L.R. Lipton, V. Johnson, C. Cummings, S. Fisher, P. Risby, A.T. Eftekhar Sadat, T. Cranston, L. Izatt, P. Sasieni, S.V. Hodgson, et al. Refining the Amsterdam Criteria and Bethesda Guidelines: Testing Algorithms for the Prediction of Mismatch Repair Mutation Status in the Familial Cancer Clinic J. Clin. Oncol., December 15, 2004; 22(24): 4934 - 4943. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Plaschke, C. Engel, S. Kruger, E. Holinski-Feder, C. Pagenstecher, E. Mangold, G. Moeslein, K. Schulmann, J. Gebert, M. von Knebel Doeberitz, et al. Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic MSH6 Germline Mutations Compared With Families With MLH1 or MSH2 Mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium J. Clin. Oncol., November 15, 2004; 22(22): 4486 - 4494. [Abstract] [Full Text] [PDF] |
||||
![]() |
Y. Yuan, Y.-q. Huang, S.-r. Cai, Y.-m. Song, S. Zheng, and S.-z. Zhang Genetic Characterization of Chinese Hereditary Non-polyposis Colorectal Cancer by DHPLC and Multiplex PCR Jpn. J. Clin. Oncol., November 1, 2004; 34(11): 660 - 666. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. H. Halbert, H. Lynch, J. Lynch, D. Main, S. Kucharski, A. K. Rustgi, and C. Lerman Colon Cancer Screening Practices Following Genetic Testing for Hereditary Nonpolyposis Colon Cancer (HNPCC) Mutations Arch Intern Med, September 27, 2004; 164(17): 1881 - 1887. [Abstract] [Full Text] [PDF] |
||||
![]() |
E Domingo, P Laiho, M Ollikainen, M Pinto, L Wang, A J French, J Westra, T Frebourg, E Espin, M Armengol, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing J. Med. Genet., September 1, 2004; 41(9): 664 - 668. [Abstract] [Full Text] [PDF] |
||||
![]() |
E Mangold, C Pagenstecher, M Leister, M Mathiak, A Rutten, W Friedl, P Propping, T Ruzicka, and R Kruse A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome J. Med. Genet., July 1, 2004; 41(7): 567 - 572. [Full Text] [PDF] |
||||
![]() |
E. Fernandez, S. Gallus, C. La Vecchia, R. Talamini, E. Negri, and S. Franceschi Family History and Environmental Risk Factors for Colon Cancer Cancer Epidemiol. Biomarkers Prev., April 1, 2004; 13(4): 658 - 661. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. L. Bermejo, F. L. Buchner, and K. Hemminki Familial risk of endometrial cancer after exclusion of families that fulfilled Amsterdam, Japanese or Bethesda criteria for HNPCC Ann. Onc., April 1, 2004; 15(4): 598 - 604. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Umar, C. R. Boland, J. P. Terdiman, S. Syngal, A. d. l. Chapelle, J. Ruschoff, R. Fishel, N. M. Lindor, L. J. Burgart, R. Hamelin, et al. Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability J Natl Cancer Inst, February 18, 2004; 96(4): 261 - 268. [Abstract] [Full Text] [PDF] |
||||
![]() |
T. S. Kent, Z. Yuan, A. Miller, and T. K. Weber Deleted in Oral Cancer-1 Expression Upregulates Proapoptosis Elements in Microsatellite-Unstable Human Colorectal Cancer Ann. Surg. Oncol., February 1, 2004; 11(2): 192 - 196. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Plaschke, S. Kruger, B. Jeske, F. Theissig, F. R. Kreuz, S. Pistorius, H. D. Saeger, I. Iaccarino, G. Marra, and H. K. Schackert Loss of MSH3 Protein Expression Is Frequent in MLH1-Deficient Colorectal Cancer and Is Associated with Disease Progression1 Cancer Res., February 1, 2004; 64(3): 864 - 870. [Abstract] [Full Text] [PDF] |
||||
![]() |
H Hampel, K Sweet, J A Westman, K Offit, and C Eng Referral for cancer genetics consultation: a review and compilation of risk assessment criteria J. Med. Genet., February 1, 2004; 41(2): 81 - 91. [Abstract] [Full Text] [PDF] |
||||
![]() |
G. Deng, I. Bell, S. Crawley, J. Gum, J. P. Terdiman, B. A. Allen, B. Truta, M. H. Sleisenger, and Y. S. Kim BRAF Mutation Is Frequently Present in Sporadic Colorectal Cancer with Methylated hMLH1, But Not in Hereditary Nonpolyposis Colorectal Cancer Clin. Cancer Res., January 1, 2004; 10(1): 191 - 195. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. J.W. Berends, Y. Wu, R. H. Sijmons, T. van der Sluis, W. B. Ek, M. J.L. Ligtenberg, N. J.W. Arts, K. A. ten Hoor, J. H. Kleibeuker, E. G.E. de Vries, et al. Toward New Strategies to Select Young Endometrial Cancer Patients for Mismatch Repair Gene Mutation Analysis J. Clin. Oncol., December 1, 2003; 21(23): 4364 - 4370. [Abstract] [Full Text] [PDF] |
||||
![]() |
E. Renkonen, Y. Zhang, H. Lohi, R. Salovaara, W. M. Abdel-Rahman, M. Nilbert, K. Aittomaki, H. J. Jarvinen, J.-P. Mecklin, A. Lindblom, et al. Altered Expression of MLH1, MSH2, and MSH6 in Predisposition to Hereditary Nonpolyposis Colorectal Cancer J. Clin. Oncol., October 1, 2003; 21(19): 3629 - 3637. [Abstract] [Full Text] [PDF] |
||||
![]() |
J Plaschke, J Ruschoff, and H K Schackert Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome J. Med. Genet., August 1, 2003; 40(8): 597 - 600. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Goel, C. N. Arnold, D. Niedzwiecki, D. K. Chang, L. Ricciardiello, J. M. Carethers, J. M. Dowell, L. Wasserman, C. Compton, R. J. Mayer, et al. Characterization of Sporadic Colon Cancer by Patterns of Genomic Instability Cancer Res., April 1, 2003; 63(7): 1608 - 1614. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. C. Chung and A. K. Rustgi The Hereditary Nonpolyposis Colorectal Cancer Syndrome: Genetics and Clinical Implications Ann Intern Med, April 1, 2003; 138(7): 560 - 570. [Abstract] [Full Text] [PDF] |
||||
![]() |
H. T. Lynch and A. de la Chapelle Hereditary Colorectal Cancer N. Engl. J. Med., March 6, 2003; 348(10): 919 - 932. [Full Text] [PDF] |
||||
![]() |
Y. Hendriks, P. Franken, J. W. Dierssen, W. de Leeuw, J. Wijnen, E. Dreef, C. Tops, M. Breuning, A. Brocker-Vriends, H. Vasen, et al. Conventional and Tissue Microarray Immunohistochemical Expression Analysis of Mismatch Repair in Hereditary Colorectal Tumors Am. J. Pathol., February 1, 2003; 162(2): 469 - 477. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. J. Mitchell, S. M. Farrington, M. G. Dunlop, and H. Campbell Mismatch Repair Genes hMLH1 and hMSH2 and Colorectal Cancer: A HuGE Review Am. J. Epidemiol., November 15, 2002; 156(10): 885 - 902. [Abstract] [Full Text] [PDF] |
||||
![]() |
M G Dunlop Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome Gut, October 1, 2002; 51(90005): v21 - 27. [Full Text] [PDF] |
||||
![]() |
B. M. Rossi, A. Lopes, F. Oliveira Ferreira, W. T. Nakagawa, C. C. Napoli Ferreira, J. C. Casali da Rocha, C. C. Simpson, and A. J. G. Simpson hMLH1 and hMSH2 Gene Mutation in Brazilian Families With Suspected Hereditary Nonpolyposis Colorectal Cancer Ann. Surg. Oncol., July 1, 2002; 9(6): 555 - 561. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. S. Wahlberg, J. Schmeits, G. Thomas, M. Loda, J. Garber, S. Syngal, R. D. Kolodner, and E. Fox Evaluation of Microsatellite Instability and Immunohistochemistry for the Prediction of Germ-Line MSH2 and MLH1 Mutations in Hereditary Nonpolyposis Colon Cancer Families Cancer Res., June 1, 2002; 62(12): 3485 - 3492. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. Kariola, T. E. Raevaara, K. E. Lonnqvist, and M. Nystrom-Lahti Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome Hum. Mol. Genet., May 16, 2002; 11(11): 1303 - 1310. [Abstract] [Full Text] [PDF] |
||||
![]() |
J Carayol, M Khlat, J Maccario, and C Bonaiti-Pellie Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated J. Med. Genet., May 1, 2002; 39(5): 335 - 339. [Full Text] [PDF] |
||||
![]() |
M. Scartozzi, F. Bianchi, S. Rosati, E. Galizia, A. Antolini, C. Loretelli, A. Piga, I. Bearzi, R. Cellerino, and E. Porfiri Mutations of hMLH1 and hMSH2 in Patients With Suspected Hereditary Nonpolyposis Colorectal Cancer: Correlation With Microsatellite Instability and Abnormalities of Mismatch Repair Protein Expression J. Clin. Oncol., March 1, 2002; 20(5): 1203 - 1208. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Muller, T. B. Edmonston, D. A. Corao, D. G. Rose, J. P. Palazzo, H. Becker, R. D. Fry, J. Rueschoff, and R. Fishel Exclusion of Breast Cancer as an Integral Tumor of Hereditary Nonpolyposis Colorectal Cancer Cancer Res., February 1, 2002; 62(4): 1014 - 1019. [Abstract] [Full Text] [PDF] |
||||






















