Genetic heterogeneity and unmapped genes for colorectal cancer

Cancer Research

Volumn 56, Issue 6, 1996, Pages 1382-1388

  Lewis, Cathryn M ^a,c   Neuhausen, Susan L ^a   Daley, Denise ^a   Black, F Jeff ^a   Swensen, J ^a   Burt, Randall W ^a   Cannon Albright, Lisa A ^a   Skolnick, Mark H ^b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Utah   (United States)

^c UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TUMOR MARKER;

ARTICLE; CHROMOSOME 18; COLORECTAL CANCER; CROSS LINKING; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENE REPLICATION; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; PENETRANCE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; COLORECTAL NEOPLASMS; DISEASE SUSCEPTIBILITY; DNA-BINDING PROTEINS; FAMILY; FEMALE; GENETIC HETEROGENEITY; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 0029897686     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. American Cancer Society (1995) Cancer Facts and Figures - 1995.
2. Woolf, C. M. A genetic study of carcinoma of the large intestine Am. J Hum. Genet., 10. 42-47, 1958
3. Macklin, M. T. Inheritance of cancer of the stomach and large intestine in man. J Natl Cancer Inst., 24: 551-571, 1960
4. Zhao, L. P., and Le Marchand, L. An analytical method for assessing patterns of familial aggregation in case-control studies. Genet. Epidemiol., 9: 141-154, 1992.
5. Goldgar, D E., Easton, D F , Cannon-Albright, L. A., and Skolnick, M. H. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl. Cancer Inst , 86: 1600-1608, 1994.
6. Vogelstein, B , Fearon, E R., Hamilton, S T , Kern, S. R , Preisinger, A. C., Leppert, M., Nakamura, Y , White, R., Smits, A M M., and Bos, J. L. Genetic alterations during colorectal tumor development. N. Engl. J. Med., 319: 525-532, 1988.
7. Delattre, O., Law, D. J , Remvikos, Y., Sastre, X., Feinberg, A. P., Olschwang, S., Melot, T , Salmon, R. J , Validire, P., and Thomas, G Multiple genetic alterations in distal and proximal colorectal cancer Lancet, 2: 353-356, 1989.
8. Fearon, E R, and Vogelstein, B A genetic model for colorectal tumorigenesis. Cell, 61: 759-767, 1990.
9. Vasen, H. F. A., Mecklin, J-P., Meera Khan, P., and Lynch, H T. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis. Colon Rectum, 34: 424-425, 1991.
10. 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 homologue MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75: 1027-1038, 1993.
11. 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, F 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 homologue associated with hereditary colon cancer. Science (Washington DC), 263 1625-1629, 1994.
12. 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, J A , 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 homologue in hereditary non-polyposis colorectal cancer. Cell, 75: 1215-1225, 1993.
13. 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 linked to chromosome 3p. Nature (Lond.), 368: 258-261, 1994.
14. Nicolaides, N. C , Papadopoulos, N., Liu, B., Wei, Y-F., Carter, K. C., Ruben, S. M., Rosen, C. S., 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., Kinzler, K. W. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature (Lond.), 371: 75-80, 1994.
15. Aaltonen, L. A., Peltomaki, P., Leach, F. S., Sistonen, P., Pylkkanen, L , Mecklin, J-P , Jarvinen, 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: 812-816, 1993.
16. Drummond, J. T., Li, G-M , Longley, M. J., and Modrich, P Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science (Washington DC), 268: 1909-1912, 1995.
17. Papadopoulos, N., Nicolaides, N. C., Liu, B., Parsons, R., Lengauer, C., Palombo, F., D'Arrigo, A., Markowitz, S., Willson, J. K. V , Kinzler, K. W., Jiricny, J., and Vogelstein, B. Mutations of GTBP in genetically unstable cells. Science (Washington DC), 268: 1915-1917, 1995.
18. Aaltonen, L A., Sankila, R., Mecklin, J-P., Jarvinen, H., Pukkala, E., Peltomaki, P., and de la Chapelle, A. A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden. Cancer Detect. Prev., 18: 57-63, 1994.
19. Lynch, K. T., Smyrk, T. C., Watson, P., Lanspa, J., Lynch, J. F., Lynch, P., Cavalieri, J., and Boland, R. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer an updated review Gastroenterology, 104: 1535-1549, 1993.
20. Cannon-Albright, L. A., Thomas, A., Goldgar, D. E., Gholami, K., Rowe, K., Jacobsen M., McWhorter, W. P., and Skolnick, M. H. Familiality of cancer in Utah Cancer Res., 54. 2378-2385, 1994.
21. Houlston, R. S., Collins, A., Slack, J., and Morton, N E Dominant genes for colorectal cancer are not rare. Ann. Hum Genet., 56: 99-103, 1992.
22. Goldgar, D. E., Rowe, K., Gholami, K., McWhorter, W., Cannon-Albright, L., and Skolnick, M. Statistical analysis of cancer in descendants of individual Utah pioneers. Am J Hum. Genet , 53: A807, 1993.
23. Saiki, T. R. K , Gelfand, D. H., Stoffel, S , Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., and Erlich, H. A Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase Science (Washington DC), 239: 487-491, 1988.
24. Mullis, K., Faloona, F., Scharf, S., Saiki, R., Horn, G., and Erlich, H. Specific enzymatic amplification of DNA in vitro, the PCR Cold Spring Harbor Symp. Quant. Biol , 51: 263-273, 1986.
25. Weber, J L., and May, P. E Abundant class of human DNA polymorphism which can be typed using the PCR. Am. J. Hum. Genet., 44: 388-396, 1989.
26. Risinger, J. L., and Boyd, J. Dinucleotide repeat polymorphism in the human DCC gene at chromosome 18q21. Hum. Mol. Genet , 1: 657, 1992.
27. Tannergard, P , Zabarovsky, E., Stanbridge, E , Nordenskjold, M , and Lindblom, A. Sublocalization of a locus at 3p21.3-23 predisposing to hereditary nonpolyposis colorectal cancer. Hum. Genet., 94: 210-214, 1994.
28. Nystom-Lahti, M., Sistonen, P., Mecklin, J-P., Pylkkanen, L., Aaltonen, L. A , Jarvinen, H., Weissenbach, J., de la Chapelle, A , and Peltomaki, P Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families. Proc. Natl. Acad. Sci. USA, 91: 6054-6058, 1994.
29. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., and Wesssenbach, J. The 1993-4 Genethon human genetic linkage map Nat. Genet., 7. 246-339, 1994.
30. Easton, D. F., Bishop, D. T., Ford, D., Crockford, G. P , and the Breast Cancer Linkage Consortium. Genetic linkage analysis in familial breast and ovarian cancer. results from 214 families. Am. J. Hum Genet., 52: 678-701, 1993.
31. Weeks, D. E., Ott, J., and Lathrop, G. M. SLINK: a general simulation program for linkage analysis. Am. J. Hum. Genet., 47 A204, 1990.
32. Lathrop, G. M., Lalouel, J. M., Julier, C., and Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA, 81: 3443-3446, 1984.
33. Lathrop, G. M., Lalouel, J. M., Julier, C., and Ott, J Multilocus linkage analysis in humans, detection of linkage and estimation of recombination. Am. J. Hum. Genet , 37: 482-498, 1985
34. Cottingham, R. W , Jr., Idury, R M , and Schaffer, A A. Faster sequential genetic linkage computations. Am. J. Hum. Genet., 53: 252-263, 1993
35. Liu, B., Parsons, R. E., Hamilton, S. R., Petersen, G. M., Lynch, H. T., Watson, P., Markowitz, S., James, 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.
36. Kolodner, R. D., Hall, N R., Lipford, J., Kane, M. F., Rao, M. R S., Morrison, P , Wirth, L., Finan, P. J., Burn, J., Chapman, P., Earabino, C., Merchant, E , and Bishop, D. T. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics, 24: 516-526, 1994.
37. Swensen, J., Lewis, C. M., and Cannon-Albright, L. A. Identification of a one-base germline deletion (codon 888 delC) and an intron splice acceptor site polymorphism in the hMSH2 gene. Hum. Mutat , in press. 1996.
38. Peltomaki, P., Aaltonen, L. A , Sistonen, P., Pylkkanen, L., Mecklin, J-P , Jarvinen, H., Green, J. S., Jass, J. R., Weber, J. L., Leach, 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.
39. 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, 1993.