hMSH6 alterations in patients with microsatellite instability-low colorectal cancer

Cancer Research

Volumn 60, Issue 8, 2000, Pages 2225-2231

  Parc, Yann R ^a   Halling, Kevin C ^a   Wang, Liang ^a   Christensen, Eric R ^a   Cunningham, Julie M ^a   French, Amy J ^a   Burgart, Lawrence J ^a   Price Troska, Tammy L ^a   Roche, Patrick C ^a   Thibodeau, Stephen N ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; COLON CARCINOGENESIS; COLORECTAL CANCER; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN TISSUE; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; CELL NUCLEUS; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; INTRONS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 17944383516     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Aaltonen, L. A., Peltomaki, P., Leach, F. S., Sistonen, P., Pylkkanen, L., Mecklin, J. P., Jarvinen, H., Powell, S. M., Jen, J., and Hamilton, S. R. Clues to the pathogenesis of familial colorectal cancer. Science (Washington DC), 260: 812-816, 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. 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.
4. Honchel, R., Halling, K. C., and Thibodeau, S. N. Genomic instability in neoplasia. Semin. Cell Biol., 6: 45-52, 1995.
5. Cunningham, J. M., Boardmann, L. A., Burgart, L. J., and Thibodeau, S. N. Microsatellite instability. In: S. Srivastava, D. E. Henson, and A. Gazdar. (eds.), Molecular Pathology of Early Cancer, pp. 405-426, Amsterdam, the Netherlands: IOS Press, 1999.
6. Thibodeau, S. N., French, A. J., Cunningham, J. M., Tester, D., Burgart, L. J., Roche, P. C., McDonnell, S. K., Schaid, D. J., Vockley, C. W., Michels, V. V., Farr, G. H., and O'Connell, M. J. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res., 58: 1713-1718, 1998.
7. Dietmaier, W., Wallinger, S., Bocker, T., Kullmann, F., Fishel, R., and Ruschoff, J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res., 57: 4749-4756, 1997.
8. Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., Meltzer, S. J., Rodriguez-Bigas, M. A., Fodde, R., Ranzani, G. N., and Srivastava, S. 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., 58: 5248-5257, 1998.
9. Kim, H., Jen, J., Vogelstein, B., and Hamilton, S. R. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am. J. Pathol., 145: 148-156, 1994.
10. Ruschoff, J., Dietmaier, W., Luttges, J., Seitz, G., Bocker, T., Zirngibl, H., Schlegel, J., Schackert, H. K., Jauch, K. W , and Hofstaedter, F. Poorly differentiated colonic adenocarcinoma, medullary type: clinical, phenotypic, and molecular characteristics. Am. J. Pathol., 150: 1815-1825, 1997.
11. Konishi, M., Kikuchi-Yanoshita, R., Tanaka, K., Muraoka, M., Onda, A., Okumura, Y., Kishi, N., Iwama, T., Mori, T., Koike, M., Ushio, K., Chiba, M., Nomizu, S., Konishi, F., Utsunomiya, J., and Miyaki, M. Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology, 111: 307-317, 1996.
12. Cunningham, J. M., Christensen, E. R., Tester, D. J., Kim, C-Y., Roche, P. C., Burgart, L. J., and Thibodeau, S. N. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res., 58: 3455-3460, 1998.
13. Kolodner, R. D., and Marsischky, G. T. Eukaryotic DNA mismatch repair. Curr. Opin. Genet. Dev., 9: 89-96, 1999.
14. Jiricny, J. Mismatch repair and cancer. Cancer Surv., 28: 47-68, 1996.
15. Fishel, R., and Wilson, T. MutS homologs in mammalian cells. Curr. Opin. Genet. Dev., 7: 105-113, 1997.
16. Acharya, S., Wilson, T., Gradia, S., Kane, M. F., Guerrette, S., Marsischky, G. T., Kolodner, R., and Fishel, R. hMSH2 forms specific mispair-binding complexes with HMSH3 and hMSH6. Proc. Natl. Acad. Sci. USA, 93: 13629-13634, 1996.
17. Drummond, J. T., Li, G. M., Longley, M. J., and Modrich, P. Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science (Washington DC), 268: 1909-1912, 1995.
18. Palombo, F., Gallinari, P., Iaccarino, I., Lettieri, T., Hughes, M., D'Arrigo, A., Truong, O., Hsuan, J. J., and Jiricny, J. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science (Washington DC), 268: 1912-1914, 1995.
19. Johnson, R. E., Kovvali, G. K., Prakash, L., and Prakash, S. Requirement of the yeast MSH3 and MSH6 genes for MSH2-dependent genomic stability. J. Biol Chem., 271: 7285-7288, 1996.
20. Papadopoulos, N., Nicolaides, N. C., Liu, B., Parsons, R., Lengauer, C., Palombo, F., D'Arrigo, A., Markowitz, S., Willson, J. K., and Kinzler, K. W. Mutations of GTBP in genetically unstable cells. Science (Washington DC), 268: 1915-1917, 1995.
21. Marsischky, G. T., Filosi, N., Kane, M. F., and Kolodner, R. Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair. Genes Dev., 10: 407-420, 1996.
22. Palombo, F., Iaccarino, I., Nakajima, E., Ikejima, M., Shimada, T., and Jiricny, J. hMutSβ, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA. Curr. Biol., 6: 1181-1184, 1996.
23. Edelmann, W., Yang, K., Umar, A., Heyer, J., Lau, K., Fan, K., Liedtke, W., Cohen, P. E., Kane, M. F., Lipford, J. R., Yu, N., Crouse, G. F., Pollard, J. W., Kunkel, T., Lipkin, M., Kolodner, R., and Kucherlapati, R. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell, 91: 467-477, 1997.
24. Miyaki, M., Konishi, M., Tanaka, K., Kikuchi-Yanoshita, R., Muraoka, M., Yasuno, M., Igari, T., Koike, M., Chiba, M., and Mori, T. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat. Genet., 17: 271-272, 1997.
25. Akiyama, Y., Sato, H., Yamada, T., Nagasaki, H., Tsuchiya, A., Abe, R., and Yuasa, Y. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res., 57: 3920-3923, 1997.
26. Shin, K. H., Ku, J. L., and Park, J. G. Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer. J. Hum. Genet., 44: 18-21, 1999.
27. Wu, Y., Berend, M. J., Mensink, R. G., Kempinga, C., Sijmons, R. H., van der Zee, A. G., Hollema, H., Kleibeuker, J. H., Buys, C. H., and Hofstra, R. M. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am. J. Hum. Genet., 65: 1291-1298, 1999.
28. Wijnen, J. T., de Leeuw, W., Vasen, H., van der Klift, H., Moller, P., Stormorken, A., Meijers-Heijboer, H., Lindhout, D., Menko, F., Vossen, S., Moslein, G., Tops, C., Brocker-Vriends, A., Wu, Y., Hofstra, R., Sijmons, R., Cornelisse, C., Morreau, H., and Fodde, R. Familial endometrial cancer in female carriers of MSH6 mutations. Nat. Genet., 23: 142-144, 1999.
29. Risinger, J. I., Umar, A., Boyd, J., Berchuck, A., Kunkel, T. A., and Barrett, J. C. Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Nat. Genet., 14: 102-105, 1996.
30. Moslein, G., Tester, D. J., Lindor, N. M., Honchel, R., Cunningham, J. M., French, A. J., Halling, K. C., Schwab, M., Goretzki, P., and Thibodeau, S. N. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum. Mol. Genet., 5: 1245-1252, 1996.
31. Astler, V. B., and Coller, J. The prognostic significance of direct extension of carcinoma of the colon and rectum. Ann. Surg., 139: 846-851, 1954.
32. Ganguly, A., Rock, M. J., and Prockop, D. J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl. Acad. Sci. USA, 90: 10325-10329, 1993.
33. Wang, L., Darling, J., Zhang, J-S., Liu, W., Qian, J., Bostwick, D., Hartmann, L., Jenkins, R., Bardenhauer, W., Schutte, J., Opalka, B., and Smith, D. I. Loss of expression of the DRR-1 gene at chromosomal hand 3p21.1 in renal cell carcinoma. Genes Chromosomes Cancer, 26: 1-10, 1999.
34. 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.
35. Nicolaides, N. C., Palombo, F., Kinzler, K. W., Vogelstein, B., and Jiricny, J. Molecular cloning of the N-terminus of GTBP. Genomics, 31: 395-397, 1996.
36. Kolodner, R. D., Tytell, J. D., Schmeits, J. L., Kane, M. F., Gupta, R. D., Weger, J., Wahlberg, S., Fox, E. A., Peel, D., Ziogas, A., Garber, J. E., Syngal, S., Anton-Culver, H., and Li, F. P. Germ-line msh6 mutations in colorectal cancer families. Cancer Res., 59: 5068-5074, 1999.
37. Vasen, H. F., Mecklin, J. P., Khan, P. M., and Lynch, H. T. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum, 34: 424-425, 1991.
38. Guerrette, S., Wilson, T., Gradia, S., and Fishel, R. Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol. Cell. Biol., 18: 6616-6623, 1998.
39. Corradi, A., Croci, L., Stayton, C. L., Gulisano, M., Boncinelli, E., and Consalez, G. G. cDNA sequence, map, and expression of the murine homolog of GTBP, a DNA mismatch repair gene. Genomics, 36: 288-295, 1996.