Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability

Japanese Journal of Cancer Research

Volumn 87, Issue 2, 1996, Pages 141-145

  Kobayashi, Kanji ^a,c   Matsushima, Mieko ^a   Koi, Sumiko ^b   Saito, Hiroko ^b   Sagae, Satoru ^c   Kudo, Ryuichi ^c   Nakamura, Yusuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b CANCER INSTITUTE   (Japan)

^c SAPPORO MEDICAL UNIVERSITY   (Japan)

Author keywords

hMLH1; hMSH2; Mismatch repair gene; Replication error; Two hits

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; BASE MISPAIRING; CANCER SCREENING; CLINICAL ARTICLE; DNA REPAIR; ENDOMETRIUM CARCINOMA; FEMALE; GENE MUTATION; GENETIC STABILITY; HUMAN; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION;

EID: 0030005834     PISSN: 09105050     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1349-7006.1996.tb03151.x     Document Type: Article

References (25)

1. Aaltonen, L. A., Peltomaki, P., Leach, F. S., Sistonen, P., Pylkkanen, L., Mecklin, J.-P., Jarvin, H., Powell, S. M., Jen, J., Hamilton, S. R., Petersen, G. M., Kinzler, K. W., Vogelstein, B. and de la Chappelle, A. Clues to the pathogenesis of familial colorectal cancer. Science, 260, 812-816 (1993).
2. Thibodeau, S. N., Bren, G. and Scaid, D. Microsatellite instability in cancer of the proximal colon. Science, 260, 816-819 (1993).
3. Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D. and Perucho, M. Ubiquitous somatic mutation in simple repeated sequences reveals a new mechanism for colonic carcinogenesis. Nature, 363, 558-561 (1993).
4. Fishel, R., Lascoe, M. K., Rao, M. R. S., Copeland, N. G., Jenkins, N. A., Garber, J., Kane, M. and Kolodner, R. The human mutator gene homologue MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75, 1027-1038 (1993).
5. Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomaki, P., Sistonen, P., Aaltonen, L. A., Nystrom-Lathi, 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).
6. 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., Tannergird, 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 nonpolyposis colon cancer. Nature, 368, 258-261 (1994).
7. 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).
8. 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., Peterson, G. M., de la Chapelle, A., Vogelstein, B. and Kinzler, K. W. Mutations of two PMS homologues in hereditary nonpolyposis colorectal cancer. Nature, 371, 75-80 (1994).
9. Parsons, R., Li, G.-M., Longley, M. J., Fang, W.-H., Papadopoulos, N., Jen, J., de la Chapelle, A., Kinzer, K. W., Vogelstein, B. and Modrich, P. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell, 75, 1227-1236 (1993).
10. Wooster, R., Cleton-Jansen, A.-M., Collins, R. S., Mangion, J., Cornelis, R. S., Cooper, C. S., Gusterson, B. A., Ponder, B. A. J., von Deimling, A., Wiestler, O. D., Cornelisse, C. J., Devilee, P. and Stratton, M. R. Instability of short tandem repeats (microsatellites) in human cancers. Nat. Genet., 6, 152-156 (1994).
11. Risinger, J. I., Berchuck, A., Kohler, M. F., Watson, P., Lynch, H. T. and Boyd, J. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res., 53, 5100-5103 (1993).
12. Lothe, R. A., Peltomaki, P., Meling, G. I., Aaltonen, L. A., Nystrom-Lahti, M., Pylkkanen, L., Heimdal, K., Andersen, T. I., Moller, P., Rognum, T. O., Fossa, S. D., Halvorsen, T., Langmark, F., Brogger, A., de la Chapelle, A. and Borssen, A. L. Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res., 53, 5849-5852 (1993).
13. 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).
14. Burks, R. T., Kessis, T. D., Cho, K. R. and Hedrick, L. Microsatellite instability in endometrial carcinoma. Oncogene, 9, 1163-1166 (1994).
15. Duggan, B. D., Felix, J. C., Muderspach, L. I., Tourgeman, D., Zheng, J. and Shibata, D. Microsatellite instability in sporadic endometrial carcinoma. J. Natl. Cancer Inst., 86, 1216-1221 (1994).
16. Kobayashi, K., Sagae, S., Kudo, R., Koi, S., Saito, H. and Nakamura, Y. Microsatellite instability in endometrial carcinomas. Genes Chromosomes Cancer, 14, 128-132 (1995).
17. Sato, T., Tanigami, A., Yamakawa, K., Akiyama, F., Kasumi, F., Sakamoto, G. and Nakamura, Y. Allelotype of breast cancer: cumulative allele losses promote tumor progression in primary breast cancer. Cancer Res., 50, 7184-7189 (1990).
18. Orita, M., Iwahara, H., Kanazawa, H. and Sekiya, T. Detection of polymorphism of human DNA by gel electrophoresis as single strand conformation polymorphism. Proc. Natl. Acad. Sci. USA, 86, 2766-2770 (1989).
19. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. A rapid and sensitive detection of point mutations and genetic polymorphism using the polymerase chain reaction. Genomics, 5, 874-879 (1989).
20. Han, H.-J., Maruyama, M., Baba, S., Park, J.-G. and Nakamura, Y. Genomic structure of a human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary nonpolyposis colorectal cancer (HNPCC). Hum. Mol. Genet., 4, 237-242 (1995).
21. Sanger, F., Nicklen, S. and Coulson, A. R. DNA sequencing with chain terminating inhibitors. Proc. Natl. Acad. Sci. USA, 74, 5463-5466 (1977).
22. Barnes, W. M. PCR amplification of up to 35-kb with fidelity and high yield from bacteriophage templates. Proc. Natl. Acad. Sci. USA, 91, 2216-2220 (1994).
23. Cheng, S., Fockler, C., Barnes, W. M. and Higuchi, R. Effective amplification of long targets from cloned inserts and human genomic DNA. Proc. Natl. Acad. Sci. USA, 91, 5695-5699 (1994).
24. Liu, B., Nicolaides, C., Markowitz, S., Willson, J. K. W., Parsons, R. E., Jen, J., Papadopoulos, N., Peltomaki, P., de la Chapelle, A., Hamilton, S. R., Kinzer, K. W. and Vogelstein, B. Mismatch repair gene defect in sporadic colorectal cancers with microsatellite instability. Nat. Genet., 9, 48-55 (1995).
25. Hemminki, A., Peltomaki, P., Mecklin, J.-P., Jarvinen, H., Salovvara, 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).