Frequent microsatellite instabilities and analyses of the related genes in familial gastric cancers

Japanese Journal of Cancer Research

Volumn 87, Issue 6, 1996, Pages 595-601

  Akiyama, Yoshimitsu ^a   Nagasaki, Hiromi ^a   Nihei, Zenro ^a   Iwama, Takeo ^a   Nomizu, Tadashi ^b   Utsunomiya, Joji ^c   Yuasa, Yasuhito ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b HOSHI GENERAL HOSPITAL   (Japan)

^c HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

DNA mismatch repair gene; Familial gastric cancer; Microsatellite instability; Replication error

Indexed keywords

DNA MARKER; MICROSATELLITE DNA; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; BASE MISPAIRING; CANCER GENETICS; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DNA REPLICATION; DNA STRUCTURE; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC STABILITY; HUMAN; HUMAN TISSUE; MALE; MOLECULAR STABILITY; PRIORITY JOURNAL; SOMATIC MUTATION; STOMACH CANCER;

EID: 0030059176     PISSN: 09105050     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1349-7006.1996.tb00265.x     Document Type: Article

References (36)

1. Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., Stenens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPherson, J., Wasmuth, J., Paslier, D. L., Abderrahim, H., Cohen, D., Leppert, M. and White, R. Identification and characterization of the familial adenomatous polyposis coli gene. Cell, 66, 589-600 (1991).
2. Kinzler, K. W., Nilbert., M. C., Su, L.-K., Vogelstein, B., Bryan, T. M., Levy, D. B., Smith, K. J., Preisinger, A. C., Hedge, P., McKechnie, D., Finniear, R., Markham, A., Groffen, J., Boguski, M. S., Altschul, S. F., Horii, A., Ando, H., Miyoshi, Y., Miki, Y., Nishisho, I. and Nakamura, Y. Identification of FAP locus genes from chromosome 5q21. Science, 253, 661-665 (1991).
3. Friend, S. H., Bernards, R., Rogelj, S., Weinberg, R. A., Rapaport, J. M., Albert, D. M. and Dryja, T. P. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature, 323, 643-646 (1986).
4. 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, 260, 812-816 (1993).
5. Wu, C., Akiyama, Y., Imai, K., Miyake, S., Nagasaki, H., Oto, M., Okabe, S., Iwama, T., Mitamura, K., Masumitsu, H., Nomizu, T., Baba, S., Maruyama, K. and Yuasa, Y. DNA alterations in cells from hereditary non-polyposis colorectal cancer patients. Oncogene, 9, 991-994 (1994).
6. Han, H.-J., Yanagisawa, A., Kato, Y., Park, J.-G. and Nakamura, Y. Genetic instability in pancreatic cancer and poorly differentiated type of gastric cancer. Cancer Res., 53, 5087-5089 (1993).
7. Peltomaki, P., Lothe, R. A., Aaltonen, L. A., Pylkkanen, L., Nystrom-Lahti, M., Seruca, R., David, L., Holm, R., Ryberg, D., Haugen, A., Brogger, A., Borresen, A.-L. and de la Chapelle, A. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res., 53, 5853-5855 (1993).
8. Rhyu, M.-G., Park, W.-S. and Meltzer, S.J. Microsatellite instability occurs frequently in human gastric carcinoma. Oncogene, 9, 29-32 (1994).
9. Zelada-Hedman, M., Iselius, L., Gunven, P., Weger, A., Nordenskjold, M., Skoog, L. and Lindblom, A. Genetic rearrangements in sporadic and familial gastric carcinomas detected with microsatellite markers. Eur. J. Surg. Oncol., 20, 667-673 (1994).
10. Sasaki, A., Nagashima, M., Shiseki, M., Katai, H., Maruyama, K., Iwanaga, R., Akiyama, Y., Yuasa, Y. and Yokota, J. Microsatellite instability in gastric cancer prone family. Cancer Lett., 99, 169-175 (1996).
11. Fishel, R., Lescoe, M. K., Rao, M. R. S., 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).
12. Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomaki, P., Sistonen, P., Aaltonen, L. A., Nystrom-Lahti, M., Guan, X.-Y., Zhang, J., Meltzer, P. S., Yu, J.-W., Kao, F.-T., Chen, D. J., Cerosaletti, K. M., Fournier, R. E. K., Todd, S., Lewis, T., Leach, R. J., Naylor, S. L., Weissenbach, J., Mecklin, J.-P., Jarvinen, H., Petersen, G. M., Hamilton, S. R., Green, J., Jass, J., Watson, P., Lynch, H. T., Trent, J. M., de la Chapelle, A., Kinzler, K. W. and Vogelstein, B. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell, 75, 1215-1225 (1993).
13. 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, 368, 258-261 (1994).
14. 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., Petersen, G. M., Watson, P., Lynch, H. T., Peltomaki, P., Mecklin, J.-P., de la Chapelle, A., Kinzler, K. W. and Vogelstein, B. Mutation of a mutL homolog in hereditary colon cancer. Science, 263, 1625-1629 (1994).
15. Nicolaides, N. C., Papadopoulos, N., Liu, B., Wei, Y.-F., Carter, K. C., Ruben, S. M., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., Venter, J. C., Dunlop, M. G., Hamilton, S. R., Petersen, G. M., de la Chapelle, A., Vogelstein, B. and Kinzler, K. W. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature, 371, 75-80 (1994).
16. Markowitz, S., Wang, J., Myeroff, L., Parsons, R., Sun, L., Lutterbaugh, J., Fan, R. S., Zborowska, E., Kinzler, K. W., Vogelstein, B., Brattain, M. and Willson, J. K. V. Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science, 268, 1336-1338 (1995).
17. Lu, S.-L., Akiyama, Y., Nagasaki, H., Saitoh, K. and Yuasa, Y. Mutations of the transforming growth factor-β type II receptor gene and genomic instability in hereditary nonpolyposis colorectal cancer. Biochem. Biophys. Res. Commun., 216, 452-457 (1995).
18. Sakumi, K., Furuichi, M., Tsuzuki, T., Kakuma, T., Kawabata, S., Maki, H. and Sekiguchi, M. Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP, a mutagenic substrate for DNA synthesis. J. Biol. Chem., 268, 23524-23530 (1993).
19. Furuichi, M., Yoshida, M. C., Oda, H., Tajiri, T., Nakabeppu, Y., Tsuzuki, T. and Sekiguchi, M. Genomic structure and chromosome location of the human mutT homologue gene MTH1 encoding 8-oxo-dGTPase for prevention of A:T to C:G transversion. Genomics, 24, 485-490 (1994).
20. Wu, C., Nagasaki, H., Maruyama, K., Nakabeppu, Y., Sekiguchi, M. and Yuasa, Y. Polymorphisms and probable lack of mutation in a human mutT homolog, hMTH1, in hereditary nonpolyposis colorectal cancer. Biochem. Biophys. Res. Commun., 214, 1239-1245 (1995).
21. Lynch, H. T., Smyrk, T. C., Watson, P., Lanspa, S. J., Lynch, J. F., Lynch, P. M., Cavalieri, R. J. and Boland, C. R. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology, 104, 1535-1549 (1993).
22. Blin, N. and Stafford, D. W. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res., 3, 2303-2308 (1976).
23. 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).
24. Hemminki, A., Peltomaki, P., Mecklin, J.-P., Jarvinen, H., Salovaara, R., Nystrom-Lahti, M., de la Chapelle, A. and Aaltonen, L. A. Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat. Genet., 8, 405-410 (1994).
25. Parsons, R., Myeroff, 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 β type II receptor gene in colorectal cancer. Cancer Res., 55, 5548-5550 (1995).
26. Liu, B., Parsons, R. E., Hamilton, S. R., Petersen, G. M., Lynch, H. T., Watson, P., Markowitz, S., Willson, J. K. V., Green, J., de la Chapelle, A., Kinzler, K. W. and Vogelstein, B. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res., 54, 4590-4594 (1994).
27. Lu, S.-L., Akiyama, Y., Nagasaki, H., Nomizu, T., Ikeda, E., Baba, S., Ushio, K., Iwama, T., Maruyama, K. and Yuasa, Y. Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations. Jpn. J. Cancer Res., 87, 279-287 (1996).
28. Han, H.-J., Maruyama, M., Baba, S., Park, J.-G. and Nakamura, Y. Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary nonpolyposis colorectal cancer (HNPCC). Hum. Mol. Genet., 4, 237-242 (1995).
29. Liu, B., Nicolaides, N. C., Markowitz, S., Willson, J. K. V., Parsons, R. E., 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).
30. Oto, M., Miyake, S. and Yuasa, Y. Optimization of nonradioisotopic single strand conformation polymorphism analysis with a conventional minislab gel electrophoresis apparatus. Anal. Biochem., 213, 19-22 (1993).
31. Nystrom-Lahti, M., Parsons, R., Sistonen, P., Pylkkanen, L., Aaltonen, L. A., Leach, F. S., Hamilton, S. R., Watson, P., Bronson, E., Fusaro, R., Cavalieri, J., Lynch, J., Lanspa, S., Smyrk, T., Lynch, P., Drouhard, T., Kinzler, K. W., Vogelstein, B., Lynch, H. T., de la Chapelle, A. and Peltomaki, P. Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am. J. Hum. Genet., 55, 659-665 (1994).
32. Horii, A., Han, H.-J., Sasaki, S., Shimada, M. and Nakamura, Y. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Biochem. Biophys. Res. Commun., 204, 1257-1264 (1994).
33. 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, 268, 1912-1914 (1995).
34. 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, 268, 1915-1917 (1995).
35. Myeroff, L. L., Parsons, R., Kim, S.-J., Hedrich, L., Cho, K. R., Orth, K., Mathis, M., Kinzler, K. W., Lutterbaugh, J., Park, K., Bang, Y.-J., Lee, H. Y., Park, J.-G., Lynch, H. T., Roberts, A. B., Vogelstein, B. and Markowitz, S. D. A transforming growth factor β receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability. Cancer Res., 55, 5545-5547 (1995).
36. Japanese Research Society Committee on Histological Classification of Gastric Cancer. The general rules for the gastric cancer study in surgery and pathology. Part II. Histological classification of gastric cancer. Jpn. J. Surg., 11, 140-145 (1981).