Mutational analysis of the transforming growth factor β receptor type II gene in hereditary nonpolyposis colorectal cancer and early-onset colorectal cancer patients

Clinical Cancer Research

Volumn 6, Issue 2, 2000, Pages 536-540

  Shin, Ki Hyuk ^a   Park, Young Jin ^a   Park, Jae Gahb ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA2;

ARTICLE; CARCINOGENESIS; COLORECTAL CANCER; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL CANCER; FRAMESHIFT MUTATION; GENE MUTATION; GENE TARGETING; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AGE OF ONSET; CODON; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; HUMANS; KOREA; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0343415643     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Fishel, R., Lescoe, M. K., Rao, M. R., 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.
2. Liu, B., Parson, R. E., Hamilton, S. R., Peterson, G. M., Lynch, H. T., Watson, P., Markowitz, S., Willson, J. K., 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.
3. 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 nonpolyposis colon cancer. Nature (Lond.), 368: 258-261, 1994.
4. Han, H.-J., Yuan, Y., Ku, J.-L., Oh, J.-H., Won, Y.-J., Kang, K.-J., Kim, K. Y., Kim, S., Kim, C. Y., Kim, J.-P., Oh, N.-G., Lee, K. H., Choe, K. J., Nakamura, Y., and Park, J.-G. Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. J. Natl. Cancer Inst., 88: 1317-1319, 1996.
5. 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., Vogestein, B., and Kinzler, K. W. Mutations of two PMS homologues in hereditary non-polyposis colon cancer. Nature (Lond.), 371: 75-80, 1994.
6. 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.
7. 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.
8. 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.
9. 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.
10. Lu, S. L., Zhang, W. C., Akiyama, Y., Nomizu, T., and Yuasa, Y. Genomic structure of the transforming growth factor β type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers. Cancer Res., 56: 4595-4598, 1996.
11. Takenoshita, S., Tani, M., Nagashima, M., Hagiwara, K., Bennett, W. P., Yokota, J., and Harris, C. C. Mutation analysis of coding sequences of the entire transforming growth factor β type II receptor gene in sporadic human colon cancer using genomic DNA and intron primers. Oncogene, 14: 1255-1258, 1997.
12. Orimo, H., Ikejima, M., Nakajima, E., Emi, M., and Shimada, T. A novel missense mutation and frameshift mutations in the type II receptor of transforming growth factor-β gene in sporadic colon cancer with microsatellite instability. Mutat. Res., 382: 115-120, 1998.
13. Lynch, M. A., Nakashima, R., Song, H., DeGroff, V. L., Wang, D., Enomoto, T., and Weghorst, C. M. Mutational analysis of the transforming growth factor β receptor type II gene in human ovarian carcinoma. Cancer Res., 58: 4227-4232, 1998.
14. Parsons, R., Myeroff, L., Liu, B., Willson, J. K., 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.
15. Wang, J., Sun, L., Myeroff, L., Wang, X., Gentry, L. E., Yang, J., Liang, J., Zborowska, E., Markowitz, S., and Willson, J. K. Demonstration that mutation of the type II transforming growth factor β receptor inactivates its tumor suppressor activity in replication error-positive colon carcinoma cells. J. Biol. Chem., 270: 22044-22049, 1995.
16. Myeroff, L. L., Parsons, R., Kim, S.-J., Hedrick, 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 by rare in endometrial cancers with microsatellite instability. Cancer Res., 55: 5545-5547, 1995.
17. Lu, S. L., Kawabata, M., Imamura, T., Akiyama, Y., Nomizu, T., Miyazono, K., Yuasa, Y. HNPCC associated with germline mutation in the TGF-β type II receptor gene. Nat. Genet., 19: 17-18, 1998.
18. Yuan, Y., Han, H.-J., Zheng, S., and Park, J.-G. Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. Dis. Colon Rectum, 41: 434-440, 1998.
19. Blin, N., and Stafford, D. M. A general method for isolation for high molecular weight DNA from eukaryotes. Nucleic Acids Res., 3: 2303-2308, 1976.
20. Shitara, Y., Yokozaki, H., Yasui, W., Takenoshita, S., Nagamachi, Y., and Tahara, E. Mutation of the transforming growth factor-β type II receptor gene is a rare event in human sporadic gastric carcinomas. Int. J. Oncol., 125: 1061-1065, 1998.
21. 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.
22. Ouyang, H., Shiwaku, H. O., Hagiwara, H., Miura, K., Abe, T., Kato, Y., Ohtani, H., Shiiba, K., Souza, R. F., Meltzer, S. J., and Horii, A. The insulin-like growth factor II receptor gene is mutated in genetically unstable cancers of the endometrium, stomach, and colorectum. Cancer Res., 57: 1851-1854, 1997.
23. 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.