| 1. |
Orita, M., Suzuki, Y., Sekiya, T., and Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms
using the polymerase chain reaction. Genomics
5, 874–879.
|
| |
| 2. |
White, M. B., Carvalho, M., Derse, D., O’Brien, S. J., and Dean, M. (1992) Detecting single base substitutions as heteroduplex
polymorphisms. Genomics
12, 301–306.
|
| |
| 3. |
Cotton, R. G. H., Rodrigues, N. R., and Campbell, R. D. (1988) Reactivity of cytosine and thymine in single-base-pair mismatches
with hydroxylamide and osmium tetroxide and its application to the study of mutations. Proc. Natl. Acad. Sci. USA
85, 4397–4401.
|
| |
| 4. |
Myers, R. M., Maniatis, T., and Lerman, L. S. (1987) Detection and localization of single base changes by denaturing gradient
gel electrophoresis. Meth. Enzymol.
155, 501–527.
|
| |
| 5. |
Sheffield, V. C., Cox, D. R., Lerman, L. S., and Myers, R. M. (1989) Attachment of a 40-base-pair G+C-rich sequence (GC-clamp)
to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. Natl. Acad. Sci. USA
86, 232–236.
|
| |
| 6. |
Forrest, S. M., Dahl, H. H., Howells, D. W., Dianzani, I., and Cotton, R. G. H. (1991) Mutation detection in phenylketonuria
by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples. Am. J. Hum. Genet.
49, 175–183.
|
| |
| 7. |
Youil, R., Kemper, B. W., and Cotton, R. G. H. (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease
VII. Proc. Natl. Acad. Sci. USA
92, 87–91.
|
| |
| 8. |
Mashal, R. D., Koontz, J., and Sklar, J. (1995) Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage
resolvases. Nat. Genet.
9, 177–183.
|
| |
| 9. |
Roest, P. A. M., Roberts, R. G., Sugino, S., Ommen, G. J. B., and Dunnen, J. T. (1993) Protein truncation test (PTT) for rapid
detection of translation-terminating mutations. Hum. Mol. Genet.
2, 1719–1721.
|
| |
| 10. |
Powell, S. M., Petersen., G. M., Krush, A. J., Booker, S., Jen, J., Giardiello, F. M., Hamilton, S. R., Vogelstein, B., and
Kinzler, K. W. (1993) Molecular diagnosis of familial adenomatous polyposis. N. Engl. J. Med.
329, 1982–1987.
|
| |
| 11. |
Sarkar, G. and Sommer, S. S. (1989) Access to a messenger RNA sequence or its protein product is not limited by tissue or
species specificity. Science
244, 331–334.
|
| |
| 12. |
Heim, R. A., Silverman, L. M., Farber, R. A., Kam-Morgan, L. N. W., and Luce, M. C. (1994) Screening for truncated NF1 proteins.
Nature Genet.
8, 218,219.
|
| |
| 13. |
Heim, R. A., Kam-Morgan, L. N. W., Binnie, C. G., Corns, D. D., Cayouette, M. C., Farber, R. A., Aylsworth, A. S., Silverman,
L. M., and Luce, M. C. (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum. Mol. Genet.
4, 975–981.
|
| |
| 14. |
Hogervorst, F. B. L., Cornelis, R. S., Bout, M., van Vliet, M., Oosterwijk, J. C., Olmer, R., Bakker, B., Klijn, J. G. M.,
Vasen, H. F. A., Meijers-Heijboer, H., Menko, F. H., Cornelisse, C. J., den Dunnen, J. T., Devilee, P., and van Ommen, G.
J. B. (1995) Rapid detection of BRCA1 mutations by the protein truncation test. Nat. Genet.
10, 208–212.
|
| |
| 15. |
Struewing, J. P., Brody, L. C., Erdos, M. R., Kase, R. G., Giambarresi, T. R., Smith, S. A., Collins, F. S., and Tucker, M.
A. (1995) Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.
Am. J. Hum. Genet.
57, 1–7.
|
| |
| 16. |
Szabo, C. I. and King, M. C. (1995) Inherited breast and ovarian cancer. Hum. Mol. Genet.
4, 1811–1817.
|
| |
| 17. |
St. John, D. J. B., McDermott, F. T., Hopper, J. L., Debney, E. A., Johnson, W. R., and Hughes, E. S. R. (1993) Cancer risk
in relatives of patients with common colorectal cancer. Ann. Intern. Med.
118, 785–790.
|
| |
| 18. |
Bailey-Wilson, J. E., Elston, R. C., Schuelke, G. S., Kimberling, W., Albano, W., Lynch, J. F., and Lynch, H. T. (1986) Segregation
analysis of hereditary nonpolyposis colorectal cancer. Genet. Epidemiol.
3, 27–38.
|
| |
| 19. |
Nagase, H. and Nakamura, Y. (1993) Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mut.
2, 425–434.
|
| |
| 20. |
Vasen, H. F. A., Mecklin, J. P., Meera Khan, P., and Lynch, H. T. (1991) The international collaborative group on hereditary
non-polyposis colorectal cancer (ICG-HNPCC). Dis. Colon Rect.
34, 424–425.
|
| |
| 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. (1993)
Genetics, natural history, tumor spectrum and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenerology
104, 1535–1549.
|
| |
| 22. |
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. (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell
75, 1215–1225.
|
| |
| 23. |
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. (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
Nature
368, 258–261.
|
| |
| 24. |
Papadopoulos, N., Nicolaides, N. C., Wei, Y. F., Rubin, 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. (1994) Mutation of a mutL homolog in hereditary
colon cancer. Science
263, 1625–1629.
|
| |
| 25. |
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. (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature
371, 75–80.
|
| |
| 26. |
Hemminki, A., Peltomaki, P., Mecklin, J. P., Jarvinen, H., Salovaara, R., Nystrom-Lahti, M., de la Chapelle, A., and Aaltonen,
L. A. (1994) Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat. Genet.
8, 405–410.
|
| |
| 27. |
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. (1995) Inactivation of type II TGF-b receptor in colon cancer cells with microsatellite
instability. Science
268, 1336–1338.
|
| |
| 28. |
Luce, M. C., Marra, G., Chauhan, D. P., Laghi, L., Carethers, J. M., Cherian, S. P., Hawn, M., Binnie, C. G., Kam-Morgan,
L. N. W., Cayouette, M. C., Koi, M., and Boland, C. R. (1995) In vitro transcription/translation assay for the screening of
hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology
109, 1368–1374.
|
| |
| 29. |
Kozak, M. (1987) An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res.
15, 8125–8133.
|
| |