Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer

Cancer Research

Volumn 58, Issue 5, 1998, Pages 997-1003

  Yamamoto, Hiroyuki ^a   Sawai, Hisako ^a   Weber, Thomas K ^b   Rodriguez Bigas, Miguel A ^b   Perucho, Manuel ^a  

^a BURNHAM INSTITUTE   (United States)

^b ROSWELL PARK CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLENBUTEROL; MICROSATELLITE DNA; PROTEIN BAX;

ADULT; AGED; APOPTOSIS; ARTICLE; BASE MISPAIRING; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DNA REPAIR; DNA SEQUENCE; FAMILIAL CANCER; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; MALE; MICROSATELLITE INSTABILITY; ONCOGENE K RAS; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADULT; AGED; APOPTOSIS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; DNA, NEOPLASM; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; PEDIGREE;

EID: 0032032682     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Loeb, L. A. Springgate, C. F., and Battula, N. Errors in DNA replication as a basis of malignant changes. Cancer Res., 34: 2311-2321, 1974.
2. Loeb, L. A. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res., 51: 3075-3079, 1991.
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. Perucho, M. Cancer of the microsatellite mutator phenotype. Biol. Chem., 377: 675-684, 1996.
5. 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., Petersen, 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.
6. Thibodeau, S., Bren, G., and Schaid, D. Microsatellite instability in cancer of the proximal colon. Science (Washington DC), 260: 816-819, 1993.
7. Marra, G., and Boland, C. R. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J. Natl. Cancer Inst., 87: 1114-1125, 1995.
8. Arnheim, N., and Shibata, D. DNA mismatch repair in mammals: role in disease and meiosis. Curr. Opin. Genet. Dev., 7: 364-370, 1997.
9. Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., and Inouye, M. Frameshift mutations and the genetic code. Cold Spring Harbor Symp. Quant. Biol., 31: 77-84, 1966.
10. Peltomaki, P., Aaltonen, L. A., Sistonen, P., Pylkkanen, L., Mecklin, J. P., Javinen, H., Green, J. S., Jass, J. R., Weber, J. L., Leach, F. S., Petersen, G. M., Hamilton, S. R., de la Chapelle, A., and Vogelstein, B. Genetic mapping of a locus predisposing to human colorectal cancer. Science (Washington DC), 260: 810-812, 1993.
11. Lindblom, A., Tannergard, P., Werelius, B., and Nordenskjold, M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat. Genet., 5: 279-282, 1993.
12. Kinzler, K. W., and Vogelstein, B. Lessons from hereditary colorectal cancer. Cell, 87: 159-170, 1996.
13. Weber, T. K., Conlon, W., Petrelli, N. J., Rodriguez-Bigas, M., Keitz, B., Pazik, J., Farrell, C., O'Malley, L., Anderson, G., Stoler, D., and Yandell, D. Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res., 57: 3798-3803, 1997.
14. Liu, B., Nicolaides, N. C., Markowitz, S., Willson, J. K. V., Parsons, R., Jen, J., Papadopoulos, N., Peltomaki, P., de la Chapelle, A., Hamilton, S. R., Kinzler, K. W., and Vogelstein, B. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat. Genet., 9: 48-55, 1995.
15. Fujii, H., and Shimada, T. Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene. J. Biol. Chem., 264: 10057-10064, 1989.
16. 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.
17. Papadopoulos, N., Nicolaides, N. C., Liu, B., Parsons, R., Lengauer, C., Palombo, F., D'Arrigo, A., Markowitz, S., Willson, J. K. V., Kinzler, K. W., Jiricny, J., and Vogelstein, B. Mutations of GTBP in genetically unstable cells. Science (Washington DC), 268: 1915-1917, 1995.
18. Modrich, P., and Lahue, R. Mismatch repair in replication fidelity, genetic recombination, and cancer biology. Annu. Rev. Biochem., 65: 101-133, 1996.
19. Kolodner, R. D. Biochemistry and genetics of eukaryotic mismatch repair. Genes Dev., 10: 1433-1442, 1996.
20. Malkhosyan, S., Rampino, N., Yamamoto, H., and Perucho, M. Frameshift mutator mutations. Nature (Lond.), 382: 499-500, 1996.
21. Yamamoto, H., Sawai, H., and Perucho, M. Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res., 57: 4420-4426, 1997.
22. Perucho, M. Microsatellite instability: the mutator that mutates the other mutator. Nat. Med., 2: 630-631, 1996.
23. 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.
24. Perucho, M., Peinado, M. A., Ionov, Y., Casares, S., Malkhosyan, S., and Stanbridge, E. Defects in replication fidelity of simple repeated sequences reveal a new mutator mechanism for oncogenesis. Cold Spring Harbor Symp. Quant. Biol., 59: 339-348, 1994.
25. Kim, H., Jen, J., Vogelstein, B., and Hamilton, S. R. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite instability. Am. J. Pathol., 145: 148-156, 1994.
26. Konishi, M., Kikuchi-Yanoshita, R., Tanaka, K., Muraoka, M., Onda, A., Okumura, Y., Kishi, N., Iwama, T., Mori, T., Koike, M., Ushio, K., 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.
27. Losi, L., Ponz de Leon, M., Jiricny, J., Di Gregorio, C., Benatti, P., Percesepe, A., Fante, R., Roncucci, L., Pedroni, M., and Benhattar, J. K-ras and p53 mutations in hereditary nonpolyposis colon cancers. Int. J. Cancer, 74: 94-96, 1997.
28. Vasen, H. F. A., Mecklin, J. P., Meera Khan, P., and Lynch, H. T. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis. Colon Rectum, 34: 424-425, 1991.
29. Goelz, S. E., Hamilton, S. R., and Vogelstein, B. Purification of DNA from formaldehyde fixed and paraffin embedded human tissue. Biochem. Biophys. Res. Commun., 130: 118-126, 1985.
30. Shibata, D., Peinado, M. A., Ionov, Y., Malkhosyan, S., and Perucho, M. Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nat. Genet. 6: 273-281, 1994.
31. Liu, B., Parsons, R. E., Hamilton, S. R., Petersen, G. M., Lynch, H. T., Watson, P., Markowitz, S., Willson, J. K., Green, J., de la Chapelle, A., Kinzler, K., and Vogelstein, B. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res., 54: 4590-4594, 1994.
32. Parsons, R., Myeroff, L. L., Liu, B., Willson, J. K. W., Markowitz, S. D., Kinzler, K. W., and Vogelstein, B. Microsatellite instability and mutations of the transforming growth receptor β type II receptor gene in colorectal cancer. Cancer Res., 55: 5548-5550, 1995.
33. Markowitz, S. D., Wang, J., Myeroff, L., Parsons, R., Sun, L., Lutterbaugh, J., Fan, R. S., Zborowska, E., Kinzler, K. W., Vogelstein, B., Brattain, M., and Wilson, J. K. V. Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science (Washington DC), 268: 1336-1338, 1995.
34. Casares, S., Ionov, Y., Ge, H. Y., Stanbridge, E., and Perucho, M. The microsatellite mutator phenotype of colon cancer cells is often recessive. Oncogene, 11: 2303-2310, 1995.
35. Koi, M., Umar, A., Chauhan, D. P., Cherian, S. P., Carethers, J. M., Kunkel, T. A., and Boland, C. R. Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N-nitro-N-titrosoguanidine deficiency in colon tumor cells with homozygous hMLH1 mutation. Cancer Res., 54: 4308-4312, 1994.
36. Nelson, R. L., and Mason, H. S. An explicit hypothesis for chemical carcinogenesis. J. Theor. Biol., 37: 197-200, 1973.
37. 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.
38. 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.
39. Korsmeyer, S. J. Regulators of cell death. Trends Genet., 11: 101-105, 1995.
40. Liu, B., Papadopoulos, N., Nicolaides, N. C., Lynch, H. T., Watson, P., Jass, J., Dunlop, M., Wyllie, A., Peltomaki, P., de la Chapelle, A., Hamilton, S. R., Vogelstein, B., and Kinzler, K. Analysis of mismatch repair genes defects in hereditary non-polyposis corectal cancer patients. Nat. Med., 2: 169-174, 1996.
41. Yin, C., Knudson, C. M., Korsmeyer, S. J., and Van Dyke, T. Bax suppresses tumorigenesis and stimulates apoptosis in vivo. Nature (Lond.), 385: 637-640, 1997.