Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees

Cancer Research

Volumn 57, Issue 17, 1997, Pages 3798-3803

  Weber, Thomas K ^a   Conlon, Wendy ^b   Petrelli, Nicholas J ^a   Rodriguez Bigas, Miguel ^a   Keitz, Bernadette ^a   Pazik, James ^a   Farrell, Carolyn ^a   O'Malley, Linda ^a   Oshalim, Maximillian ^a   Abdo, May ^a   Anderson, Garth ^a   Stoler, Daniel ^a   Yandell, David ^b  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

^b UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASE MISPAIRING; CANCER SCREENING; COLORECTAL CANCER; DNA DETERMINATION; ENDOMETRIUM CANCER; FAMILIAL CANCER; GASTROINTESTINAL CARCINOMA; GENE MUTATION; GENETIC LINKAGE; GERM LINE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; UNITED STATES; URINARY TRACT CANCER;

ADULT; BASE SEQUENCE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; FAMILY; FEMALE; GENETIC SCREENING; GENOTYPE; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTS HOMOLOG 2 PROTEIN; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINS; PROTO-ONCOGENE PROTEINS; UNITED STATES;

EID: 15444355648     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Warthin, A. S. The further study of a cancer family. J. Cancer Res., 9: 279-286, 1925.
2. Lynch, H. T., Smyrk, T., Watson, P., Lanspa, S. J., Boman, B. M., Lynch, P. M., Lynch, J. F., and Cavalieri, J. Hereditary colorectal cancer. Semin. Oncol., 18: 337-366, 1991.
3. Marra, G., and Boland, C. R. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J. Natl. Cancer Inst., 87: 1114-1125, 1995.
4. Rodriguez-Bigas, M. A., Lee, P. H. U., O'Malley, L., Weber, T. K., Suh, O., Andersom, G. R., and Petrelli, N. J. Establishment of a hereditary nonpolyposis colorectal cancer registry. Dis. Colon Rectum. 39: 649-653 1996.
5. Xia, L., Shen, W., Ritacca, F., Mitri, A., Madlensky, L., Berk, T., Cohen, Z., Gallinger, S,. and Bapat, B. A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis. Cancer Res., 56: 2289-2292, 1996.
6. Vasen, H. F. A., Mecklin, J-P., Khan, P. M., and Lynch, H. T. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis. Colon Rectum, 34: 424-425, 1991.
7. Peltomaki, P. Aaltonen, L. A., Sistonen, P., Pylkkanen, L., Mecklin, J. P., Jarvinen, H., Green, J. S., Jass, J. R., Weber, J. L., Leach, F. S., Petersen, G. M., Hamilton, S. R., de la Chapelle, A., and Vogelstein, B. Genetic mapping of a locus predisposing to human colorectal cancer. Science (Washington DC), 260: 810-812, 1993.
8. Lindblom, A., Tannergard, P., Werelius, B., and Nordenskjold, M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat. Genet., 5: 279-282.
9. Fishel, R., Lescoe, M. K., Rao, M. R. S., Copeland, N. G., Jenkins, N. A., Garber, J., Kane, M., and Kolodner, R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75: 1027-1038, 1993.
10. 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., Foumler, 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.
11. 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 non-polyposis colon cancer. Nature (Lond.), 368: 258-261, 1994.
12. 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 (Washington DC), 263: 1625-1629, 1994
13. Nicolaides, N. C., Papadopoulos, N., Liu, B., Wel, 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. Palombo, F., Gullinari, P., Iaccarino, I., Lettieri, T., Hughes, M. A., D'Arrigo, A., Truong, O., Hsuan, J. J., and Jiricny, J. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science (Washington DC), 268: 1912-1914, 1995.
15. Jarvinen, H. J., Mecklin, J. P., and Sistonen, P. Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology, 108: 1405-1411, 1995.
16. Weber, T. Clinical surveillance recommendations for HNPCC. Lancet, 348: 465, 1996.
17. Liu, B., Parsons, R. E., Hamilton, S. R., Petersen, G. M., Lynch, H. T., Watson, P., Markowitz, S., Willson, J. K. V., 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.
18. Wijnen, J., Vasen, H., Khan, P. M., Menko, F. H., van der Klift, H., van Leeuwen, C., van den Broek, M., van Leeuwen-Cornelisse, I., Nagengast, F., Maijers-Heijboer, A., Lindhout, D., Griffioen, G., Cats, A., Kleibeuker, J., Varesco, L., Bertario, L., Bisgaard, M. L., Mohr, J., and Fodde, R. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am. J. Hum. Genet., 56: 1060-1066, 1995.
19. Tannergard, P., Lipford, J. R., Kolodner, R., Frodin, J. E., Nordenskjold, M., and Lindblom, A. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res., 55: 6092-6096, 1995.
20. Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., Berger, P. C., Wood, P. A., Taqi, F., Booker, S. V., Petersen, G. M., Offerhaus, G. J. A., Tersmette, A. C. Giardiello, F. M., Vogelstein, B., and Kinzler, K. W. The molecular basis of Turcot's syndrome. N. Engl. J. Med., 332: 839-885, 1995.
21. Nystrom-Lahti, M., Wu, Y., Moisio, A-L., Hofstra, R. M. W., Osinga, J., Mecklin, J-P., Jarvinen, H. J., Leisti, J., Buys, C. H. C. M., de la Chapelle, A., and Peltomaki, P. DNA mismatch repair gene mutation in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum. Mol. Genet., 5: 763-769, 1996.
22. Wijnen, J., Khan, P. M., Vasen, H., Menko, F., van der Klift, H., van den Broek, M., van Leeuwen-Cornelisse, I., Nagengast, F., Maijers-Heijboer, E. J., Lindhout, D., Griffioen, G., Cats, A., Kleibeuker, J., Varesco, L., Bertario, L., Bisgaard, M. L., Mohr, J., Kolodner, R., and Fodde, R. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am. J. Hum. Genet., 58: 300-307, 1996.
23. Liu, B., Parsons, R., Papadopoulos, N., Nicolaides, N. C. Lynch, H. T., Watson, P., Jass, J. R., Dunlop, M., Wyllie, A., Peltomaki, 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.
24. Kohonen-Corish, M., Ross, V. L., Doe, W. F., Kool, D. A., Edkins, E., Faragher, I., Wijnen, J., Khan, P. M., Macrae, F., and St. John, D. J. B. RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am. J. Hum. Genet., 59: 818-824, 1996.
25. Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Morrison, P. T., Finan, P. J., Burn, J., Chapman, P., Earabino, C., Merchant, E., and Bishop, D. T. Structure of the human MLU1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res., 55: 242-248, 1995.
26. Mauillon, J. L., Michel, P., Limacher, J-M., Latouche, J-B., Dechelotte, P., Charbonnier, F., Martin, C., Moreau, V., Metayer, J., Paillot, B., and Frebourg, T. Identification of novel germline hMLH1 mutations including a 22kb alu-mediated deletion in patients with familial colorectal cancer. Cancer Res., 56: 5728-5733, 1996.
27. Viel, A., Genuardi, M., Capozzi, E., Leonardi, F., Bellacosa, A., Paravatou-Petsotas, M., Pomponi. M. G., Fornasarig, M., Percesepe, A., Roncucci, L., Tamassia, M. G., Benatti, P., Ponz de Leon, M., Valenti, A., Covino, M., Anti, M., Foletto, M., Boiocchi, M., and Neri, G. Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chromosomes & Cancer, 18: 8-18, 1997.
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. In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology, 109: 1368-1374, 1995.
29. Han, H-J., Maruyama, M., Baba, S., Park, J-G., and Nakamura, Y. Genomic structure of human mismatch repair gene. hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum. Mol. Genet., 4: 237-242, 1995.
30. Moisio, A-L., Sistonen, P., Weissenbach, J., de la Chapelle, A., and Peltomaki, P. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am. J. Hum. Genet., 59: 1243-1251, 1996.
31. Nystrom-Lahti, M., Kristo, P., Nicolaides, N. C., Chang, S-Y., Aaltonen, L. A., Moisio, A-L., Jarvinen, H. J., Mecklin, J-P, Kinzler, K. W., Vogelstein, B., de la Chapelle, A., and Peltomaki, P. Founding mutations and alu-mediated recombination in hereditary colon cancer. Nat. Med., 1: 1203-1206, 1995.
32. Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D., and Perucho, M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonie carcinogenesis. Nature (Lond.), 363: 558-561, 1993.
33. Toguchida, J., Yamaguchi, T., Dayton, S. H., Beauchamp, R., Herreraa, G. E., Ishizaki, K., Yamamuro, T., Meyers, P., Little, J. B., Sasaki, M. S., Weichselbaum, R. R., and Yandell, D. Prevalence and spectrum of germ-line p53 gene mutations among patients with sarcoma. N. Engl. J. Med., 326: 1301-1308, 1992.
34. Caspari, R. Friedl, W., and Mandl, M. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet, 343: 629-632, 1994.
35. Lewis, C. M., Neuhausen, S. L., Daley, D., Black, F. J., Swensen, J., Burt, R. W., Cannon-Albright, L. A., and Skolnick, M. H. Genetic heterogeneity and unmapped genes for colorectal cancer. Cancer Res., 56: 1382-1388, 1996.
36. Kane, M. F., Massimo, L., Gaida, G. M., Lipman, J., Mishra, R., Goldman, H., Jessup, J. M., and Kolodner, R. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res., 57: 808-811, 1997.