Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (apc) gene by direct protein truncation test

Genomics

Volumn 20, Issue 1, 1994, Pages 1-4

  Van Der Luijt, Rob ^a   Khan, P Meera ^a   Vasen, Hans ^b   Van Leeuwen, Claus ^a   Tops, Carli ^a   Roest, Pauline ^a   Den Dunnen, Johan ^a   Fodde, Riccardo ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b Foundation for the Detection of Hereditary Tumors ^*  (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0028289053     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1994.1119     Document Type: Article

References (9)

1. Cottrell, S., Bicknell, D., Kaklamanis, L., and Bodmer, W. F. (1992). Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 340: 626-630.
2. Fodde, R., van der Luijt, R., Wijnen, J., Tops, C., van der Klift, H., van Leeuwen-Cornelisse, I., Griffioen, G., Vasen, H., and Meera Khan, P. (1992). Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 13: 1162-1168.
3. Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Al- bertsen, H., Joslyn, G., Stevens, J., Spirio, L., Robertson, M., Sar- geant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPherson, J., Wasmuth, J., Le Pastier, D., Abderrahim, H., Cohen, D., Leppert, M., and White, R. (1991). Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589-600.
4. Miyoshi, Y., Nagase, H., Ando, H., Horii, A., Ichii, S-, Nakatsuru, S., Aoki, T., Miki, Y., Mori, T., and Nakamura, Y. (1992a). Somatic mutations of the APC gene in colorectal tumors: Mutation cluster region in the APC gene. Hum. Mol. Genet. 4: 229-233.
5. Miyoshi, Y., Ando, H., Nagase, H., Nishisho, I., Horii, A., Miki, Y., Mori, T., Utsunomiya, J., Baba, S., Petersen, G., Hamilton, S. R., Kinzler, K. W., Vogelstein, B., and Nakamura, Y. (1992b). Germline mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc. Natl. Acad. Sci. USA 89: 4452-4456.
6. Nishisho, I., Nakamura, Y., Miyoshi, Y., Miki, Y., Ando, H., Horii, A., Koyama, K., Utsunomiya, J., Baba, S., Hedge, P., Markham, A., Krush, A. J., Petersen, G., Hamilton, S. R., Nilbert, M. C., Levy, D. B., Bryan, T. M., Preisinger, A. C., Smith, K. J., Su, L. K., Kinzler, K. W., and Vogelstein, B. (1991). Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665-669.
7. Roest, P. A. M., Roberts, R. G., Sugino, S., van Ommen, G. J. B., and den Dunnen, J. T. (1993). Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum. Mol. Genet. 2: 1719-1721.
8. Smith, K. J., Johnson, K. A., Bryan, T. M., Hill, D. E., Markowitz, S., Willson, J. K. V., Paraskeva, C., Petersen, G. M., Hamilton, S. R., Vogelstein, B., and Kinzler, K. W. (1993). The APC gene product in normal and tumor cells. Proc. Natl. Acad. Sci. USA 90: 2846-2850.
9. Wallis, Y., Macdonald, F., Rindl, P. M., Hulten, M., McKeown, C., Morton, D. G., Keighley, M. R. B., Fodde, R., van der Luijt, R. B., and Meera Khan, P. (1992). Germline APC mutation familial adenomatous polyposis in Indian family. Lancet 340: 1035.