Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

Journal of the National Cancer Institute

Volumn 96, Issue 4, 2004, Pages 261-268

  Umar, Asad ^a   Boland, C Richard ^b   Terdiman, Jonathan P ^c   Syngal, Sapna ^a   de la Chapelle, Albert ^f   Rüschoff, Josef ^g   Fishel, Richard ^h   Lindor, Noralene M ⁱ   Burgart, Lawrence J ⁱ   Hamelin, Richard ^j   Hamilton, Stanley R ^k   Hiatt, Robert A ^d   Jass, Jeremy ^l   Lindblom, Anika ^m   Lynch, Henry T ⁿ   Peltomaki, Paivi ^o   Ramsey, Scott D ^p   Rodriguez Bigas, Miguel A ^k   Vasen, Hans F A ^q   Hawk, Ernest T ^a   Barrett, J Carl ^a   Freedman, Andrew N ^a   Srivastava, Sudhir ^e   more..

^a NATIONAL CANCER INSTITUTE   (United States)

^b BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e DANA FARBER CANCER INSTITUTE   (United States)

^f OHIO STATE UNIVERSITY   (United States)

^g KLINIKUM KASSEL   (Germany)

^h THOMAS JEFFERSON UNIVERSITY   (United States)

ⁱ MAYO CLINIC ROCHESTER   (United States)

^j INSERM   (France)

^k UNIVERSITY OF TEXAS   (United States)

^l MCGILL UNIVERSITY   (Canada)

^m KAROLINSKA INSTITUTE   (Sweden)

ⁿ CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o UNIVERSITY OF HELSINKI   (Finland)

^p Fred Hutchinson Cancer Research Center   (United States)

^q Found Detection of Hered Tumors   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN MLH1;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANCER CENTER; CANCER DIAGNOSIS; CANCER RISK; CLINICAL FEATURE; COLORECTAL TUMOR; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; ECONOMIC ASPECT; EPIGENETICS; FAMILIAL CANCER; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; HETEROZYGOTE DETECTION; HIGH RISK PATIENT; HISTOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NUCLEOTIDE REPEAT; ONSET AGE; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; WORKSHOP;

EID: 10744233937     PISSN: 00278874     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnci/djh034     Document Type: Article

References (60)

1. Umar A, Boyer JC, Thomas DC, Nguyen DC, Risinger JI, Boyd J, et al. Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability. J Biol Chem 1994;269: 14367-70.
2. Vasen HF, Sanders EA, Taal BG, Nagengast FM, Griffioen G, Menko FH, et al. The risk of brain tumours in hereditary non-polyposis colorectal cancer (HNPCC). Int J Cancer 1996;65:422-5.
3. Lynch HT, Smyrk T, Lynch J. An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 1997;93:84-99.
4. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, et al. A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda Guidelines. J Natl Cancer Inst 1997;89:1758-62.
5. Warthin AS. Hereditary with reference to carcinoma. Arch Int Med 1913; 12:546-55.
6. Lynch HT. A historical perspective on hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Dis Markers. In press 2004.
7. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57.
8. Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Ruschoff J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997;57:4749-56.
9. Jass JR, Walsh MD, Barker M, Simms LA, Young J, Leggett BA. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer 2002;38:858-66.
10. Shitoh K, Konishi F, Miyaki M, Iijima T, Furukawa T, Tsukamoto T, et al. Pathogenesis of non-familial colorectal carcinomas with high microsatellite instability. J Clin Pathol 2000;53:841-5.
11. Potocnik U, Glavac D, Golouh R, Ravnik-Glavac M. Causes of microsatellite instability in colorectal tumors: implications for hereditary nonpolyposis colorectal cancer screening. Cancer Genet Cytogenet 2001;126: 85-96.
12. Salahshor S, Koelble K, Rubio C, Lindblom A. Microsatellite instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer. Lab Invest 2001;81:535-41.
13. Kuismanen SA, Holmberg MT, Salovaara R, de la Chapelle A, Peltomaki P. Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol 2000;156: 1773-9.
14. Lindor NM, Burgart LJ, Leontovich O, Goldberg RM, Cunningham JM, Sargent DJ, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-8.
15. Samowitz WS, Curtin K, Neuhausen S, Schaffer D, Slattery ML. Prognostic implications of BAX and TGFBRII mutations in colon cancers with microsatellite instability. Genes Chromosomes Cancer 2002;35:368-71.
16. Salahshor S, Kressner U, Fischer H, Lindmark G, Glimelius B, Pahlman L, et al. Microsatellite instability in sporadic colorectal cancer is not an independent prognostic factor. Br J Cancer 1999;81:190-3.
17. Farrington SM, McKinley AJ, Carothers AD, Cunningham C, Bubb VJ, Sharp L, et al. Evidence for an age-related influence of microsatellite instability on colorectall cancer survival. Int J Cancer 2002;98:844-50.
18. Peltomaki P, Vasen HF. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 1997;113:1146-58.
19. Kim H, Jung JK, Park JH, Park C. Immunohistochemical characteristics of colorectal carcinoma with DNA replication errors. J Korean Med Sci 1996;11:137-43.
20. Lax SF, Kurman RJ. A dualistic model for endometrial carcinogenesis based on immunohistochemical and molecular genetic analyses. Verh Dtsch Ges Pathol 1997;81:228-32.
21. Kim H, Piao Z, Kim JW, Choi JS, Kim NK, Lee JM, et al. Expression of hMSH2 and hMLH1 in colorectal carcinomas with microsatellite instability. Pathol Res Pract 1998;194:3-9.
22. Khurana V, Stollman N, Rogers AI. Colorectal cancer: predicting prognosis for patients and probands using immunohistochemistry. Am J Gastroenterol 2000;95:2981-2.
23. GCA. Collaborative Study Group on Familial Colon Cancer. 2003. German Cancer Aid (Deutschen Krebshilfe). Available at: http://www.hnpcc.de. [Last accessed: January 9, 2004.]
24. Hoang JM, Cottu PH, Thuille B, Salmon RJ, Thomas G, Hamelin R. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res 1997;57:300-3.
25. Suraweera N, Duval A, Reperant M, Vaury C, Furlan D, Leroy K, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002;123: 1804-11.
26. Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, et al. Low-level microsatellite instability in most colorectal carcinomas. Cancer Res 2002;62:1166-70.
27. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001; 121:198-213.
28. Terdiman JP, Gum JR Jr, Conrad PG, Miller GA, Weinberg V, Crawley SC, et al. Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. Gastroenterology 2001;120:21-30.
29. Terdiman JP, Levin TR, Allen BA, Gum JR Jr, Fishbach A, Conrad PG, et al. Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry. Gastroenterology 2002;122:940-7.
30. Syngal S, Fox EA, Eng C, Kolodner RD, Garber JE. Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet 2000;37:641-5.
31. Wahlberg SS, Schmeits J, Thomas G, Loda M, Garber J, Syngal S, et al. Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families. Cancer Res 2002;62:3485-92.
32. de Leon MP, Pedroni M, Benatti P, Percesepe A, Di Gregorio C, Foroni M, et al. Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis. Gut 1999;45:32-8.
33. Ponz de Leon M, Sassatelli R, Benatti P, Roncucci L. Identification of hereditary nonpolyposis colorectal cancer in the general population. The 6-year experience of a population-based registry. Cancer 1993;71:3493-501.
34. Evans DG, Walsh S, Jeacock J, Robinson C, Hadfield L, Davies DR, et al. Incidence of hereditary non-polyposis colorectal cancer in a population-based study of 1137 consecutive cases of colorectal cancer. Br J Surg 1997;84:1281-5.
35. Riegler G, Savastano A, Selvaggi F, Ciociano R, Martino R, Riccio G, et al. Prevalence of HNPCC in a series of consecutive patients on the first endoscopic diagnosis of colorectal cancer: a multicenter study. The Italian Collaborative Group. Endoscopy 1999;31:337-41.
36. Chao A, Gilliland F, Willman C, Joste N, Chen IM, Stone N, et al. Patient and tumor characteristics of colon cancers with microsatellite instability: a population-based study. Cancer Epidemiol Biomarkers Prev 2000;9:539-44.
37. Peel DJ, Ziogas A, Fox EA, Gildea M, Laham B, Clements E, et al. Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. J Natl Cancer Inst 2000;92:1517-22.
38. Percesepe A, Borghi F, Menigatti M, Losi L, Foroni M, Di Gregorio C, et al. Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study. J Clin Oncol 2001;19:3944-50.
39. Hemminki K, Li X. Familial colorectal adenocarcinoma and hereditary nonpolyposis colorectal cancer: a nationwide epidemiological study from Sweden. Br J Cancer 2001;84:969-74.
40. Katballe N, Christensen M, Wikman FP, Orntoft TF, Laurberg S. Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. Gut 2002;50:43-51.
41. Raedle J, Schaffner M, Esser N, Sahm S, Trojan J, Kriener S, et al. Frequency of the Amsterdam criteria in a regional German cohort of patients with colorectal cancer. Z Gastroenterol 2002;40:561-8.
42. Furukawa T, Konishi F, Shitoh K, Kojima M, Nagai H, Tsukamoto T. Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma. Cancer 2002;94:911-20.
43. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338: 1481-7.
44. Salovaara R, Loukola A, Kristo P, Kaariainen H, Ahtola H, Eskelinen M, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000;18:2193-200.
45. Samowitz WS, Curtin K, Lin HH, Robertson MA, Schaffer D, Nichols M, et al. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001;121:830-8.
46. Ravnik-Glavac M, Potocnik U, Glavac D. Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population. J Med Genet 2000;37:533-6.
47. Wu AH, Shibata D, Yu MC, Lai MY, Ross RK. Dietary heterocyclic amines and microsatellite instability in colon adenocarcinomas. Carcinogenesis 2001;22:1681-4.
48. Lin KM, Shashidharan M, Thorson AG, Ternent CA, Blatchford GJ, Christensen MA, et al. Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancer. J Gastrointest Surg 1998;2:67-71.
49. Lin JT, Wu MS, Shun CT, Lee WJ, Wang JT, Wang TH, et al. Microsatellite instability in gastric carcinoma with special references to histopathology and cancer stages. Eur J Cancer 1995;31A:1879-82.
50. Lynch HT, Lynch JF. 25 years of HNPCC. Anticancer Res 1994;14:1617-24.
51. Smyrk TC, Watson P, Kaul K, Lynch HT. Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma. Cancer 2001;91:2417-22.
52. Greenson JK, Bonner JD, Ben-Yzhak O, Cohen HI, Miselevich I, Resnick MB, et al. Phenotype of microsatellite unstable colorectal carcinomas: well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Am J Surg Pathol 2003; 27:563-70.
53. de la Chapelle A. Testing tumors for microsatellite instability. Eur J Hum Genet 1999;7:407-8.
54. de la Chapelle A, Peltomaki P. Genetics of hereditary colon cancer. Annu Rev Genet 1995;29:329-48.
55. Aktan-Collan K, Mecklin JP, Jarvinen H, Nystrom-Lahti M, Peltomaki P, Soderling I, et al. Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer 2000;89: 44-50.
56. Wijnen J, van der Klift H, Vasen H, Khan PM, Menko F, Tops C, et al. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 1998;20:326-8.
57. Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, Boland CR, et al. Conversion of diploidy to haploidy. Nature 2000;403:723-4.
58. Nakagawa H, Yan H, Lockman J, Hampel H, Kinzler KW, Vogelstein B, et al. Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. Cancer Res 2002;62:4579-82.
59. Iino H, Jass JR, Simms LA, Young J, Leggett B, Ajioka Y, et al. DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J Clin Pathol 1999;52:5-9.
60. Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, et al. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments. Cancer Res 2000;60:2760-3.