Identification of concurrent germ-line mutations in hMSH2 and/or hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds

Cancer Epidemiology Biomarkers and Prevention

Volumn 6, Issue 12, 1997, Pages 1057-1064

  Nakahara, Masahiro ^a   Yokozaki, Hiroshi ^a   Yasui, Wataru ^a   Dohi, Kiyohiko ^a   Tahara, Eiichi ^a  

^a HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; COLON CARCINOGENESIS; COLORECTAL CANCER; FAMILIAL CANCER; FEMALE; GENE MUTATION; HUMAN; JAPAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; EXONS; FEMALE; GENETIC MARKERS; GERM-LINE MUTATION; HUMANS; JAPAN; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; SEQUENCE ANALYSIS, DNA; TRANSFORMING GROWTH FACTOR BETA; TUMOR MARKERS, BIOLOGICAL;

EID: 0031467875     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. 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.
2. Lynch, H. T., Smyrk, T., and Lynch, J. F. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). Int. J. Cancer (Pred. Oncol.), 69: 38-43, 1996.
3. Vasen, H. F. A., Mecklin, J-P., Watson, P., Utsunomiya, J., Bertario, L., Lynch, P., Svendsen, L. B., Cristofaro, G., Müller, H., Khan P. M., and Lynch, H. T. The International Collaborative Group on HNPCC: surveillance in hereditary nonpolyposis colorectal cancer. Dis. Colon Rectum, 36: 1-4, 1993.
4. Mecklin, J-P., and Järvinen, H-J. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer (Phila.), 68: 1109-1112, 1991.
5. Lynch, H. T, Smyrk, T. C., and Watson, P. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology, 104: 1535-1549, 1993.
6. Vasen, H. F. A., Mecklin, J-P., Meera Khan, P., and Lynch, H. T. The International Collaborative group on Hereditary Non-polyposis Colorectal Cancer. Dis. Colon Rectum, 34: 424-425, 1991.
7. Kunitomo, K., Terashima, Y., Sasaki, K., Komi, N., Yosikawa, R., Utsunomiya, J., and Yasutomi, M. HNPCC in Japan. Anticancer Res., 12: 1856-1857, 1992.
8. Aaltonen, L. A., Peltomäki, P., Leach, F. S., Sistonen, P., Pylkkänen, L., Mecklin, J-P., Järvinen, 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: 812-860, 1993.
9. Lothe, R. A., Peltomäki, P., Meling, G. I., Aaltonen, L. A., Nyström-Lahti, M., Pylkkänen, L., Heimdal, K., Andersen, T. I., Moller, P., Rornum, T. O., Fossa, S. D., Haldorsen, 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: 5849-5852, 1993.
10. Aaltonen, L. A., Peltomäki, P., Mecklin, J-P., Järvinen, H., Jass, J. R., Green, J. S., Lynch, H. T., Watoson, P., Tallqvist, G., Juhola, M., Sistonen, P., Hamilton, S. R., Kinzler, K. W., Vogelstein, B., and de la Chapelle, A. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res., 54: 1645-1648, 1994.
11. Liu, B., Parsons, R., Papadopoulos, N., Nicolaides, N. C., Lynch, H. T., Watson, P., Jass, J. R., Dunlop, M., Wyllie, A., Peltomäki, 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.
12. 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., Tannergrand, P., Bollag, R. J., Godwin, A. R., Ward, D. C., Nordenskjoid, 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 (Lond.), 368: 258-261, 1994.
13. 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 (Lond.), 371: 75-80, 1994.
14. Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomäki, P., Sistonen, P., Aaltonen, L. A., Nyström-Lahti, M., Guan, X-Y., Zang, J., Meltzler, 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., Järvinen, 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.
15. 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., Peltomäki, P., Mecklin, J-P., de la Chapelle, A., Kinzler, K. W., and Vogelstein, B. Mutation of a mutL homolog in hereditary nonpolyposis colon cancer. Science (Washington DC), 263: 1625-1629, 1994.
16. 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.