Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression

Cancer Research

Volumn 57, Issue 21, 1997, Pages 4749-4756

  Dietmaier, Wolfgang ^a   Wallinger, Sabine ^a   Bocker, Tina ^b   Kullmann, Frank ^a   Fishel, Richard ^b,c   Rüschoff, Josef ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ADULT; AGED; ARTICLE; BASE MISPAIRING; COLON CARCINOGENESIS; DIAGNOSTIC VALUE; DNA REPAIR; GENE LOCUS; GENE SEQUENCE; GENETIC STABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; REPRODUCIBILITY;

ADENOCARCINOMA; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; GENETIC MARKERS; HUMANS; MICROSATELLITE REPEATS; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; PROSPECTIVE STUDIES; PROTEINS; PROTO-ONCOGENE PROTEINS; REPRODUCIBILITY OF RESULTS;

EID: 0030778613     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D., and Perucho, M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature (Lond.), 363: 558-561, 1993.
2. Thibodeau, S. N., Bren, G., and Schaid, D. Microsatellite instability in cancer of the proximal colon. Science (Washington DC), 260: 816-819, 1993.
3. Aaltonen, L. A., Peltomaki, P., Leach, F. S., Sistonen, P., Pylkkanen, L., Mecklin, J. P., Jarvinen, H., Powell, S. M., Jen, J., Hamilton, S. R., Peterson, G. M., Kinzler, K. W., Vogelstein, B., and de la Chapelle, A. Clues to the pathogenesis of familial colorectal cancer. Science (Washington DC), 260: 812-816, 1993.
4. Fishel, R., Lescoe, M. K., Rao, M. R., Copeland, N. G., Jenkins, N. A., Garber, J., Kane, M., and Kolodner, R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75: 1027-1038, 1993.
5. Bronner, C. E., Baker, S. M., Morrison, P. T., Warren, G., Smith, L. G., Lescoe, M. K., Kane, M., Earabino, C., Lipford, J., Lindblom, A., Tannergard, P., Bollag, R. J., Godwin, A. R., Ward, D. C., Nordenskjold, M., Fishel, R., Kolodner, R., and Liskay, R. M. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature (Lond.), 368: 258-261, 1994.
6. Papadopoulos, N., Nicolaides, N. C., Wei, Y. F., Ruben, S. M., Carter, K. C., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., Venter, J. C., Hamilton, S. R., Peterson, G. M., Watson, P., Lynch, H. T., Peltomäki, P., Mecklin, J. P., de la Chapelle, A., Kinzler, K. W., and Vogelstein, B. Mutation of a mutL homolog in hereditary colon cancer. Science (Washington DC), 263: 1625-1629, 1994.
7. Marra, G., Boland, C. R. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J. Natl. Cancer Inst., 87: 1114-1125, 1995.
8. Rüschoff, J., Bocker, T., Schlegel, J., Stumm, G., and Hofstaedter, F. Microsatellite instability: new aspects in the carcinogenesis of colorectal carcinoma. Virchows Arch., 426: 215-222, 1995.
9. Fisher, J. C., and Holloman, J. H. A hypothesis for the origin of cancer foci. Cancer (Phila.), 4: 916-918, 1958.
10. Knudsen, A. G. Genetics of human cancer. Annu. Rev. Genet., 20: 231-251, 1986.
11. Bocker, T., Schlegel, J., Kullmann, F., Stumm, G., Zirngibl, H., Epplen, J. T., and Ruschoff. J. Genomic instability in colorectal carcinomas: comparison of different evaluation methods and their biological significance. J. Pathol., 179: 15-19, 1996.
12. Schlegel, J., Stumm, G., Scherthan, H., Bocker, T., Zirngibl, H., Ruschoff, J., and Hofstadter, F. Comparative genomic in situ hybridization of colon carcinomas with replication error. Cancer Res., 55: 6002-6005, 1995.
13. Markowitz, S., Wang, J., Myeroff, L., Parsons, R., Sun, L., Lutterbaugh, F., Fan, R. S., Zborowska, E., Kinzler, K. W., Vogelstein, B., Brattain, M., and Willson, J. K. V. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science (Washington DC), 268: 1336-1338, 1995.
14. Souza, R. F., Appel, R., Yin, J., Wang, S., Smolinski, K. N., Abraham, J. M., Zou, T. T., Shi, Y. Q., Lei, J., Cottrell, J., Cymes, K., Biden, K., Simms, L., Leggett, B., Lynch, P. M., Frazier, M., Powell, S. M., Harpaz, N., Sugimura, H., Young, J., and Meltzer, S. J. Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours. Nat. Genet., 14: 255-257, 1996.
15. Rampino, N., Yamamoto, H., Ionov, Y., Li, Y., Sawai, H., Reed, J. C., and Perucho, M. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science (Washington DC), 275: 967-969, 1997.
16. Aaltonen, L. A., Salovaara, R., Kristo, P., Canzian, F., Hemminki, A., Peltomäki, P., Chadwik, R. B., Percesepe, A., Kääriäninen, H., Ahtola, H., Eskelinen, M., Härkönen, N., Julkunen, R., Kangas, E., Ojala, S., Tulikoura, J., Valkamo, E., Järvinen, H., Mecklin, J. P., and de la Chapelle, A. Molecular mass screening for HNPCC. H. T. Lynch and H. F. A. Vasen (eds.). Nordwijk, the Netherlands: The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer, First Joint Meetine June 4-7. Abstracts, p. 6, 1997.
17. Aebi, S., Kurdi Haidar, B., Gordon, R., Cenni, B., Zheng, H., Fink, D., Christen, R. D., Boland, C. R., Koi, M., Fishel, R., and Howell, S. B. Loss of DNA mismatch repair in acquired resistance to cisplatin. Cancer Res., 56: 3087-3090, 1996.
18. Seruca, R., Santos, N. R., David, L., Constancia, M., Barroca, H., Carneiro, F., Seixas, M., Peltomaki, P., Lothe, R., and Sobrinho-Simoes, M. Sporadic gastric carcinomas with microsatellite instability display a particular clinicopathologic profile. Int. J. Cancer, 64: 32-36, 1995.
19. Liu, L., Markowitz, S., and Gerson, S. L. Mismatch repair mutations override alkyltransferase in conferring resistance to temozolomide but not to 1,3-bis(2-chloroethyl)nitrosourea. Cancer Res., 56: 5375-5379, 1996.
20. Rodriguez-Bigas, M. A., Boland, R., Hamilton, S. R., Henson, D., Jass, J., Merra-Khan, P., Lynch, H. A. T., Perucho, M., Smyrk, T., Sobin, L., and Srivastava, S. The intersection of genetics and pathology in hereditary nonpolyposis colorectal cancer (HNPCC). National Cancer Institute, Nov. 11-12, 1996.
21. Park, J. G., Vasen, H. F. A., Peltomäki, P., Ponz de Leon, M., Rodriguez-Bigas, M. A., Lubinski, J., Piepoli, A., Beck, N. E., Bisgaard, M. L., Miyaki, M., and Lynch, H. T. The genetic diagnosis of suspected-HNPCC: interim report. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer, First Joint Meeting June 4-7, Abstracts, p. 19, 1997.
22. Vasen, H. F., Mecklin, J. P., Khan, P. M., Lynch, H. A. T. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum, 34: 424-425, 1991.
23. Rüschoff, J., Dietmaier, W., Lüttges, J., Seitz, G., Bocker, T., Zirngibl, H., Schlegel, J., Schackert, H. K., Jauch, K. W., and Hofstädter, F. Poorly differentiated colonic adenocarcinoma: clinical, phenotypic, and molecular characteristics. Am. J. Pathol., 150: 1815-1825, 1997.
24. Schlegel, J., Bocker, T., Schlegel, J., Bocker, T., Zirngibl, H., Hofstadter, F., and Ruschoff, J. Detection of microsatellite instability in human colorectal carcinomas using a nonradioactive PCR-based screening technique. Virchows Arch., 426: 223-227, 1995.
25. Hoang, J. M., Cottu, P. H., Thuille, B., Salmon, R. J., Thomas, G., and Hamelin, R. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res., 57: 300-303, 1997.
26. Perucho, M. Cancer of the microsatellite mutator phenotype. J. Biol. Chem., 377: 675-684, 1996.
27. Lothe, R. A., Peltomäki, P., Meling, G. I., Aaltonen, L. A., Nyström-Lahti, M., Pylkänen, L., Heimodal, K., Anersen, T. I., Moller, P., Rognum, T. O., Fossa, S. D., Halorsen, T., Langmark, F., Brogger, A., de la Chapelle, A., and Borresen, A. L. Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res., 53: 5849-5882, 1993.
28. Parsons, R., Myerhoff, L. L., Liu, B., Willson, J. K. V., Markowitz, S. D., Kinzler, K. W., and Vogelstein, B. Microsatellite instability and mutations of the transforming, growth factor beta type II receptor gene in colorectal cancer. Cancer Res., 55: 5548-5550, 1995.
29. Branch, P., Bicknell, D. C., Rowan, A., Bodmer, W. F., and Karran, P. Immune surveillance in colorectal carcinoma. Nat. Genet. 9: 231-232, 1995.
30. Malkhosyan, S., McCarty, A., Sawai, H., and Perucho, M. Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype. Mutat. Res., 316: 249-259, 1996.
31. Jin, L., Macaubas, C., Hallmayer, J., Kimura, A., and Mignot, E. Mutation rate varies among alleles at a microsatellite locus: phylogenetic evidence. Proc. Natl. Acad. Sci. USA, 93: 15285-15288, 1996.
32. Huang, J., Papadopoulos, N., McKinley, A. J., Farrington, S. M., Curtis, L. J., Wyllie, A. H., Zheng, S., Willson, J. K., Markowitz, S. D., Morin, P., Kinzler, K. W., Vogelstein, B., and Dunlop, M. G. APC mutations in colorectal tumors with mismatch repair deficiency. Proc. Natl. Acad. Sci. USA, 93: 9049-9054, 1996.
33. Bubb, V. J., Curtis, L. J., Cunningham, C., Dunlop, M. G., Carothers, A. D., Morris, R. G., White, S., Bird, C. C., and Wyllie, A. H. Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer. Oncogene. 12: 2641-2649, 1996.
34. Gleeson, C. M., Sloan, J. M., McGuigan, J. A., Ritchie, A. J., Weber, J. L., and Russell, S. E. Widespread microsatellite instability occurs infrequently in adenocarcinoma of the gastric cardia. Oncogene, 12: 1653-1662, 1996.
35. Thibodeau, S. N., French, A. J., Roche, P. C., Cunningham, J. M., Tester, D. J., Lindor, N. M., Moslein, G., Baker, S. M., Liskay, R. M., Burgart, L. J., Honchel, R., and Halling, K. C. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res., 56: 4836-4840, 1996.
36. Bocker, T., Diermann, J., Friedl, W., Gebert, J., Holinski-Feder, E., Karner-Hanusch, J., von Knebel-Doeberitz, M., Koelble, K., Moeslein, G., Schackert, H. K., Wirtz, H. C., Fishel, R., and Rüschoff, J. Microsatellite instability analysis: a multicenter study for reliability and quality control. Cancer Res., 57: 4739-4743, 1997.
37. Sood, A. K., and Buller, R. E. Genomic instability in ovarian cancer: a reassessment using an arbitrarily primed polymerase chain reaction. Oncogene, 13: 2499-2504, 1996.
38. Papadopoules, N. Science (Washington DC), 268: 1915-1917, 1995.
39. Liu, B., Parsons, R., Papadopoulos, N., Nicolaides, N. C., Lynch, H. T., Watson, P., Jass, J. R., Dunlop, M., Wyllie, A., Peltomazi, P., de la Chapelle, A., Hamilton, S. R., Vogelstein, B., and Kinzler, K. W. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat. Med., 2: 169-174, 1996.
40. Chen, J., Heerdt, B. G., and Augenlicht, L. H. Presence and instability of repetitive elements in sequences, the altered expression of which characterizes risk for colonic cancer. Cancer Res., 55: 174-180, 1995.
41. Weber, J. L., Kwitek, A. E., May, P. E., Wallace, M. R., Collins, F. S., and Ledbetter, D. H. Dinucleotide polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res., 18: 4640, 1990.
42. Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissete, J., Millasseau, P., Vaysseix, G., and Lathrop, M. A second generation linkage map of the human genome. Nature (Lond.), 359: 794-801, 1992.
43. Spirio, L., Joslyn, G., Nelson, L., Leppert, M., and White, R. A CA repeat 30-70 kb downstream for the adenomatous polyosis coli (APC) gene. Nucleic Acids Res., 79: 6348, 1991.
44. Straub, R. E., Speer, M. C., Luo, Y., Rojas, K., Overhauser, J., Ott, J., and Gilliam, T. C. A microsatellite genetic linkage map of human chromosome 18. Genomics, 15: 48-56, 1993.
45. Weber, J. L., and May, P. E. Dinucleotide repeat polymorphism at the D10S89 locus. Nucleic Acids Res., 18: 4637, 1990.
46. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., and Weissenbach, J. The 1993-94 Genethon human genetic linkage map. Nat. Genet., 7: 246-339, 1994.
47. Dib, C., Faure, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J., and Weissenbach, J. A comprehensive map of the human genome based on 5,264 microsatellites. Nature (Lond.), 380: 152-154, 1996.
48. Jones, M. H., and Nakamura, Y. Detection of loss of heterozygosity at the human TP53 locus using a dinucleotide repeat polymorphism. Genes Chromosomes Cancer, 5: 89-90, 1992.
49. Polymeropoulos, M. H., Rath, D. S., Xiao, H., and Merril, C. R. Trinucleotide repeat polymorphism at the human transcription factor 11D gene. Nucleic Acids Res., 19: 4307, 1991.
50. Mazela, T. P., Hellsten, E., Vesa, J., Alitalo, K., and Peltonen, L. An Alu variable poly A repeat polymorphism upstream of L-myc at 1p.32. Hum. Mol. Genet., 1: 217, 1992.
51. Huang, Y., Boynton, R. T., Blount, P. L., Silverstein, R. J., Yin, J., Tong, Y., McDaniel, T. K., Newkirk, C., Resau, J. H., and Sridhara, R. Loss of heterozygosity involves multiple tumor suppressor genes in human esophageal cancers. Cancer Res., 52: 6525-6530, 1992.
52. Edwards, A., Hammond, H. A., Jin, L., Caskey, C. J., and Chazraborty, R. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics, 12: 241-253, 1992.
53. Futreal, P. A., Barret, J. C., and Wiseman, R. W. An Alu polymorphism intragenic to the TP53 gene. Nucleic Acids Res., 79: 6977, 1991.