6 Literaturverzeichnis

1. Aaltonen, L. A., Peltomäki, P., Leach, F.S., Sistonen, P., Pylkkänen, L., Mecklin, J.-P., Järvinen, H., Powell, S.M., Jen. J., G.M., Hamilton, S.R., Petersen, G.M., Kinzler, K.W., Vogelstein, B., de la Chapelle, A. (1993). Clues to the pathogenesis of familial colorectal cancer. Science 260: 812- 815.

2. Aarnio, M., Mecklin, J.P., Aaltonen, L.A., Nyström-Lahti, M., Järvinen, H.J. (1995). Life-time risk of different cancers in hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64: 430-433.

3. Ahnen, D. J. (1996). The genetic basis of colorectal cancer risk. Adv Intern Med 41: 531-552.

4. Akiyama, Y., Iwanaga, R., Saitoh, K., Shiba, K., Ushio, K., Ikeda, E., Iwama, T., Nomizu, T., Yuasa, Y. (1997). Transforming growth factor beta type II receptor gene mutations in adenomas from hereditary nonpolyposis colorectal cancer. Gastroenterology 112: 33-39.

5. Akiyama, Y., Sato, H., Yamada, T., Nagasaki, H., Tsuchiya, A., Abe, R., Yuasa, Y. (1997). Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57: 3920-3923.

6. Bachmann, K.-D., Bartram, C.R., Chang-Claude, J., Fonatsch, C., Propping, P. (1998). Richtlinien zur Diagnostik der genetischen Disposition für Krebserkrankungen. Dtsch Ärzteblatt 95 (22): 1120-1126

7. Bailey-Wilson, J.E., Elston, R.C., Schuelke, G.S., Kimberling, W., Albano, W., Lynch, J.F., Lynch, H.T. (1986). Segregation analysis of hereditary nonpolyposis colorectal cancer. Genet Epidemiol 3(1): 27-38.

8. Baker, S.J., Fearon, E.J., Nigro, J.M., Hamilton, S.R., Preisinger, A.C., Jessup, J.M., Tuinen, P. v., Ledbetter, D.H., Barker, D.F., Nakamura, Y., White, R., Vogelstein, B. (1989). Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science 244: 217-221.

9. Bapat, B., Xia, L., Madlensky, L., Mitri, A., Tonin, P., Narod, S.A., Gallinger, S. (1996). The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet 59: 736-739.

10. Beck, N. E., Tomlinson, I.P.M., Homfray, I., Hodgson, S.V., Harocopos, C., Bodmer, W.F. (1997). Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. Hum Genet 99: 219-224.

11. Bellacosa, A., Genuardi, M., Anti, M., Viel, A., Ponz de Leon, M. (1996). Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet 62: 353-364.

12. Birnboim, H.C., Doly, J. (1979). A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res 7(6): 1513-1523.

13. Bishop, D.T., Thomas, H.J.W. (1990). The genetics of colorectal cancer. Cancer Surv 9: 585-604.

14. Bishop, D.T., Hall, N.R. (1994). The genetics of colorectal cancer. Eur J Cancer 30A(13): 1946-1956.

15. Bocker, T., Diermann, J., Friedl, W., Gebert, J., Holinski-Feder, E., Karner-Hanusch, J., von Knebel-Doeberitz, M., Koeble, K., Moeslein, G., Schackert, H.-K., Wirtz, H.-C., Fishel, R., Rüschoff, J. (1997). Microsatellite instability analysis: a multicenter study for reliability and quality control. Cancer Res 57: 4739-4743.

16. Boolbol, S.K., Dannenberg, A.J., Chadburn, A., Martucci, C., Guo, X.J., Ramonetti, J.T., Abreu-Goris, M., Newmark, H.L., Lipkin, M.L., DeCosse, J.J., Bertagnolli, M.M. (1996). Cyclooxygenase-2 overexpression and tumor formation are blocked by sulindac in a murine model of familial adenomatous polyposis. Cancer Res 56: 2556-2560.

17. Boom, R., Sol, C.J.A., Salimans, M.M.M., Lansen, C.L., Wertheim-van Dillen, P.M.E., Noordaa, J. v. d. (1990). Rapid and simple method for purification of nucleic acids. J Clin Microbiol 28: 495- 503.

18. Bootsma, D., Hoeijmakers, J.H. (1994). The molecular basis of nucleotide excision repair syndromes. Mutat Res 307: 15-23.

19. Børresen, A.-L., Lothe, R.A., Meling, G.I., Lystad, S., Morrison, P., Lipford, J., Kane, M.F., Rognum, T.O., Kolodner, R.D. (1995). Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas. Hum Mol Genet 4(11): 2065- 2072.

20. Boyer, J.C., Umar, A., Risinger, J.I., Lipford, J.R., Kane, M., Yin, S., Barrett, J.C., Kolodner, R.D., Kunkel, T.A. (1995). Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines. Cancer Res 55: 6063- 6070.

21. Brentnall, T.A., Rubin, C.E., Crispin, D.A., Stevens, A., Batchelor, R.H., Haggitt, R.C., Bronner, M.P., Evans, J.P., McCahill, L.E., Bilir, N., Boland, C.R., Rabinovitch, P.S. (1995). A germline substitution in the human MSH2 gene is associated with high-grade dysplasia and cancer in ulcerative colitis. Gastroenterology 109: 151-155.

22. Bresalier, R.S., Kim, Y.S. (1993). Malignant neoplasms of the large intestine. Gastrointestinal disease: pathophysiology/diagnosis/management. M. H. Sleisinger, Fordtran, J.S. Philadelphia, W.B. Saunders. 2: 1449-1493.

23. Bronner, E.C., Baker, A.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., 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. Brown, M.L., Kessler, L.G. (1995). The use of gene tests to detect hereditary predispositions to cancer: economic considerations. J Natl Cancer Inst 87(15): 1131-1136.

25. Brown, M.L., Kessler, L.G. (1996). Use of gene tets to detect hereditary predisposition to cancer: what do we know about cost effectivness ? Int J Cancer 69: 55-57.

26. Bubb, V.J., Curtis, L.J., Cunningham, C., Dunlop, M.G., Carothers, A.D., Morris, R.G., White, S., Bird, C.C., Wyllie, A.H. (1996). Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer. Oncogene 12: 2641-2649.

27. Buerstedde, J.-M., Alday, P., Torhorst, J., Weber, W., Müller, H., Scott, R. (1995). Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes. J Med Genet 32: 909- 912.

28. Burke, W., Petersen, G., Lynch, P., Botkin, J., Daly, M., Garber, J., Kahn, M.J.E., McTiernan, A., Offit, K., Thomson, E., Varricchio, C. (1997). Recommendations for follow-up care of individuals with an inherited predisposition to cancer. JAMA 277(11): 915-919.

29. Burt, R.W., Cannon-Albright, L.A., Bishop, D.T. (1993). Familial factors in sporadic adenomas and colorectal cancer. Probs Gen Surg 10: 688-694.

30. Byers, T., Levin, B., Rothenberger, D., Dodd, G.D., Smith, R.A. (1997). American Cancer Society guidelines for screening and surveillance for early detection of colorectal polyps and cancer: update 1997. CA Cancer J Clin 47: 154-160.

31. Cannon-Albright, L.A., Skolnick, M.H., Bishop, D.T. (1988). Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med 319: 533-537.

32. Casar, S., Ionov, Y., Ge, H.Y., Stanbridge, E., Perucho, M. (1995). The microsatellite mutator phenotype of colon cancer cells is often recessive. Oncogene 11: 2303-2310.

33. Charbonnier, F., Martin, C., Scotte, M., Sibert, L., Moreau, V., Frebourg, T. (1995). Alternative splicing of MLH1 messenger RNA in human normal cells. Cancer Res 55: 1839- 1841.

34. Chi, D.D., Toshima, K., Donis-Keller, H., Wells Jr., S.A. (1994). Predictive testing for multiple endocrine neoplasia type 2A (MEN 2A) based on the detection of mutations in the RET protooncogene. Surgery 116: 124-133.

35. Chung, D.C., Rustgi, A.K. (1995). DNA mismatch repair and cancer. Gastroenterology 109: 1685-1699.

36. Cleaver, J.E., Layher, S.K. (1995). „If the shoe fits": clues on structural recognition of DNA damage. Cell : 825-827.

37. Cohen, P.R., Kohn, S.R., Kurzrock, R. (1991). Association of sebaceous gland tumors and internal malignancy: The Muir-Torre syndrome. Am J Med 90: 606-613.

38. Cotterill, S.M., Reyland, M.E., Loeb, L.A., Lehman, I.E. (1987). A cryptic proofreading 3', 5' exonuclease associated with the polymerase subunit of the DNA polymerase-primase from Drosophila melanogaster. Proc Natl Acad Sci USA 84: 8267-8271.

39. Cotton, R.G.H. (1992). Detection of mutations in DNA. Curr Opin Biotech 3: 24-30.

40. Cotton, R.G.H. (1993). Current methods of mutation detection. Mutat Res 285: 125-144.

41. Cunningham, C., Dunlop, M.G. (1996). Molecular genetic basis of colorectal cancer susceptibility. Br J Surg 83: 85-92.

42. Dietmaier, W., Wallinger, S., Bocker, T., Kullmann, F., Fishel, R., Rüschoff, J. (1997). Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 57: 4749-4756.

43. Dietrich, W.F., Lander, E.S., Smith, J.S., Moser, A.R., Gould, K.A., Luongo, C., Borenstein, N., Dove, W. (1993). Genetic identification of MOM-1, a major modifier locus affecting MIN-induced intestinal neoplasia in the mouse. Cell 75: 631-639.

44. Drummond, J.T., Li, G.-M., Longley, M.J., Modrich, P. (1995). Isolation of an hMSH2- p160 heterodimer that restores DNA mismatch repair to tumor cells. Science 268: 1909- 1912.

45. Dukes, C.E. (1932). The classification of cancer of the rectum. J Pathol Bacteriol 35: 323-332.

46. Fan, E., Levin, D.B., Glickman, B.W., Logan, D.M. (1993). Limitations in the use of SSCP analysis. Mutat Res 228: 85-92.

47. Fang, W.H., Modrich, P. (1993). Human strand-specific mismatch repair occurs by a bidirectional mechanism similar to that of the bacterial reaction. J Biol Chem 268: 11838-11844.

48. Fearon, E.R., Hamilton, S.R., Vogelstein, B. (1987). Clonal analysis of human colorectal tumors. Science 238: 193-197.

49. Fearon, E.R., Cho, K.R., Nigo, J.M., Kern, S.E., Simons, J.W., Ruppert, J.M., Hamilton, S.R., Preisinger, A.C., Thomas, G., Kinzler, K.W., Vogelstein, B. (1990). Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 247: 49-56.

50. Fearon, E.R., Vogelstein, B. (1990). A genetic model for colorectal tumorigenesis. Cell 61: 759-767.

51. Fink, D., Nebel, S., Aebi, S., Zheng, H., Cenni, B., Nehme, A., Christen, R.D., Howell, S.B. (1996). The role of DNA mismatch repair in platinum drug resistance. Cancer Res 56: 4881-4886.

52. Fishel, R., Lescoe M.K., Rao, M.R.S., Copeland, N.G., Jenkins N.A., Garber, J., Kane, M., Kolodner, R. (1993). The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75: 1027- 1038.

53. Fishel, R., Wilson, T. (1997). MutS homologs in mammalian cells. Curr Opin Genet Dev 7: 105-113.

54. Foulds, L. (1958). The natural history of cancer. J Chronic Dis 8: 2-37.

55. Froggatt, N.J., Joyce, J.A., Davies, R., Evans, D.G.R., Ponder, B.A.J., Barton, D.E., Maher, E.R. (1995). A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome. Lancet 345: 727- 728.

56. Froggatt, N.J., Brassett, C., Koch, D.J., Evans, G.R., Hodgson, S.V., Ponder, B.A.J., Maher, E.R. (1996). Mutation screening of hMSH2 and hMLH1 mRNA in hereditary non-polyposis colon cancer syndrome. J Med Genet 33: 726-730.

57. Fuchs, C.S., Giovannucci, E.L., Colditz, G.A., Hunter, D.J., Speizer, F.E., Willett, W.C. (1994). A prospective study of family history and the risk of colorectal cancer. N Engl J Med 331: 1669-1674.

58. Fujii, H., Shimada, T. (1989). Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene. J Biol Chem 264: 10057-10064.

59. Gardner, E.J., Richards, R.C. (1953). Multiple cutaneous and subcutaneous lesions occuring simultaneously with hereditary polyposis and osteomatosis. Am J Human Genet 5: 139-147.

60. Garewal, H.S. (1994). Aspirin in the prevention of colorectal cancer. Ann Intern Med 121: 303-304.

61. Giardiello, F.M., Brensinger, J.D., Petersen, G.M., Luce, M.C., Hylind, L.M., Bacon, J.A., Booker, S.V., Parker, R.D., Hamilton, S.R. (1997). The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. New Engl J Med 336(12): 823-827.

62. Giovannucci, E., Rimm, E.B., Stampfer, M.J. (1994). A prospective study of cigarette smoking and risk of colorectal adenoma and colorectal cancer in U.S. men. J Natl Cancer Inst 86: 183-191.

63. Glavac, D., Dean, M. (1993). Optimization of the single-stranded conformation polymorphism (SSCP) technique for detection of point mutations. Hum. Mutat. 2: 404-414.

64. Hackman, P., Tannergard, P., Osei-Mensa, S., Chen, J., Kane, M.F., Kolodner, R., Lambert, B., Hllgren, D., Lindblom, A. (1997). A human compound heterozygote for two MLH1 missense mutations. Nature Genet 17: 135-136.

65. Haenzel, W., Kurihara, M. (1968). Mortality from cancer and other diseases among Japanese in the United States. J Natl Cancer Inst 40: 43-68.

66. Hall, N.R., Murday, V.A., Chapman, P., Williams, M.A.T., Burn, J., Finan, P.J., Bishop, D.T. (1994). Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. Eur J Cancer 30A: 180-182.

67. Hamilton, S.R., Liu, B., Parsons, R.E., Papadopoulos, N., Jen, J., Powell, S.M., Krush, A.J., Berk, T., Cohen, Z., Tetu, B., Burger, 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., Kinzler, K (1995). The molecular basis of Turcot's syndrome. New Engl J Med 332(13): 839- 847.

68. Han, H.-J., Maruyama, M., Baba, S., Park, J.-G., Nakamura, Y. (1995). 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(2): 237- 242.

69. Hawn, M.T., Umar, A., Carethers, J.M., Marra, G., Kunkel, T.A., Boland, C.R., Koi, M. (1995). Evidence for a connection between mismatch repair system and G2 cell cycle checkpoint. Cancer Res 55: 3721- 3725.

70. Hemminki, A., Peltomäki, P., Mecklin, J.-P., Järvinen, H., Salovaara, R., Nyström- Lahti, M., de la Chapelle, A., Aaltonen, L.A. (1994). Loss of wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nature Genet 8: 405- 410.

71. Hoang, J.-M., Cottu, P.H., Thuille, B., Salmon, R.J., Thomas, G., Hamelin, R. (1997). BAT-26 an indicator of replication error phenotype in colorectal cancers and cell lines. Cancer Res 57: 300-303.

72. Horii, A., Han, H.J., Sasaki, S., Shimada, M., Makamura, Y. (1994). Cloning, characterization and chromosomal assignment of the human genes homologues to yeast PMS1, a member of mismatch repair genes. Biochem Biophys Res Commu 204(3): 1257- 1264.

73. Houlston, R.S., Murday, V., Harocopos, C., Williams, C.B., Slack, J. (1990). Screening and genetic counseling for relatives of patients with colorectal cancer in a family cancer clinic. Br Med J 301: 366-368.

74. Houlston, R.S., Collins, A., Slack, J., Morton, M.E. (1992). Dominant genes for colorectal cancer are not rare. Ann Hum Genet 56: 99-103.

75. Hubbard, R., Lewontin, R.C. (1996). Pitfalls of genetic testing. New Engl J Med 334(18): 1192-1194.

76. Hutter, P., Couturier, A., Scott, R.J., Alday, P., Delozier-Blanchet, C., Cachat, F., Antonarakis, S.E., Joris, F., Gaudin, F., D'Amato, L., Buerstedde, J.M. (1996). Complex genetic predisposition to cancer in an extended HNPCC family with ancestral hMLH1 mutation. J Med Genet 33: 636-640.

77. Ionov, Y., Peinado, M.A., Malkhosyan, S., Shibata, D., Perucho, M. (1993). Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363: 558- 561.

78. Jacobasch, G., Jacobasch, K.-H. (1997). Molekulare Ursachen kolorektaler Kanzerogenese, klinische Manifestation und Therapie. Z Ärztl Fortbild Qualitätssich 91: 125-133.

79. Jacoby, R.F., Marshall, D.F., Kailas, S., Schlack, S., Harms, B., Love, R. (1995). Genetic instability with adenoma to carcinoma progession in hereditary nonpolyposis colorectal colon cancer. Gastroenterology 109: 73-82.

80. Jass, J.R., Stewart, S.M. (1992). Evolution of hereditary non-polyposis colorectal cancer. GUT 33: 783-786.

81. Jass, J.R., Edgar, S. (1994). Unicryptal loss of heterozygosity in hereditary nonpolyposis colorectal cancer. Pathology 26: 414-417.

82. Jass, J.R., Smyrk, T.C., Steward, S.M., Land, M.R., Lanspa, S.J., Lynch, H.T. (1994). Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res 14: 1631-1634.

83. Jen, J., Kim, H., Piantadosi, S., Liu, Z.-F., Levitt, R.C., Sistonen, P., Kinzler, K.W., Vogelstein, B., Hamilton, S.R. (1994). Allelic loss of chromosome 18q and prognosis in colorectal cancer. New Engl J Med 331(4): 213-221.

84. Jeon, H.M., Lynch, P.M., Howard, L., Ajani, J., Levin, B., Frazier, M.L. (1996). Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer. Hum Mutat 7: 327-333.

85. Karran, P., Marinus, M.G. (1982). Mismatch correction of 06-methylguanine residues in E.coli DNA. Nature 296: 868-869.

86. Kee, F., Collins, B.J. (1991). How prevalent is cancer family syndrome? GUT 32: 509-512.

87. Keen, J., Lester, D., Inglehearn, C., Cutis, A., Bhattacharya, S. (1991). Rapid detection of single base mismatches as heteroduplexes on hydrolink gels. Trends in Genetics 7: 5.

88. Kikuchi-Yanoshita, R., Konishi, M., Ito, S., Seki, M., Tanaka, K., Maeda, Y., Iino, H., Fukayama, M., Koike, M., Mori, T. (1992). Genetic changes of both p53 alleles associated with the conversion from colorectal adenoma to early carcinoma in familial adenomatous polyposis and nonfamilial adenomatous polyposis patients. Cancer Res 52: 3965-3971.

89. Kim, H., Jen, J., Vogelstein, B., Hamilton, S.R. (1994). Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol 145(1): 148-156.

90. Kinzler, K.W., Vogelstein, B. (1996). Lessons from hereditary colorectal cancer. Cell 87: 159- 170.

91. Knudson, A.G. (1985). Hereditary cancer, oncogenes, and antioncogenes. Cancer Res 45: 1437-1443.

92. Kohnen-Corish, M., Ross, V.L., Doe, W.F., Kool, D.A., Edkins, E., Faragher, I., Wijnen, J., Khan, P.M., Macrae, F., St John, D.J.B. (1996). RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am J Hum Genet 59: 818-824.

93. Kolodner, R.D., Hall, N.R., Lipford, M.F., Kane, M.F., Rao, M.R.S., Morrison, P., Wirth, L., Finan, P.J., Burn, J., Chapman, P., Earabino, C., Merchant, E., Bishop, T. (1994). Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for MSH2 mutations. Genomics 24: 516- 526.

94. 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., Bishop, D.T. (1995). Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for MLH1 mutations. Cancer Res 55: 242- 248.

95. Kozak, M. (1987). An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res 15: 8125- 8148.

96. Krawczak, M., Reiss, J., Schmidtke, J., Rosler, U. (1989). Polymerase chain reaction: replication errors and reliability of gene diagnosis. Nucleic Acids Res. 17: 2197-2201.

97. Kronburg, A., Baker, T. (1992). DNA Replication. New York, W.H. Freeman and Co.

98. Kumar, R., Barbacid, M. (1988). Oncogene detection at the single cell level. Oncogene 3(6): 647-651.

99. Kumar, R., Dunn, L.L. (1989). Designed diagnostic restriction fragment polymorphisms for the detection of point mutations in ras oncogenes. Oncogene Res 4(3): 235-241.

100. Lang, N.P., Chu, D.Z.J., Hunter, C.F., Kendall, D.C., Flammang, T.J., Kadlubar, F.F., (1986). Role of aromatic amine acetyltransferase in human colorectal cancer. Arch Surg 121: 1259-1261.

101.Law, I.P., Herberman, R.B., Oldham, R.K., Bouzoukis, J., Hanson, S.M., Rhode, M.C. (1977). Familial occurence of colon and uterine carcinoma and of lymphoproliferative malignancies: clinical destription. Cancer 39: 1224-1228.

102. Lazar, V., Grandjouan, S., Bagnel, C., Couturier, D., Rougier, P., Bellet, D., Bressac-de Paillerets, B. (1994). Accumulation of multistep mutations in tumor suppressor genes during colorectal tumorigenesis in HNPCC patients. Hum Mol Genet 3(12): 2257- 2260.

103. Leach, F.S., Nicolaides, N.C., Papadopoulos, N., Liu. B., Jen, J., Parsons, R., Peltomäki, P., Sistonen, P., Aaltonen, L.A., Nyström- 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 (1993). Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215- 1225.

104. Leadon, S.A., Avrutskaya, A.V. (1997). Differential involvement of the human mismatch repair proteins, hMLH1 and hMSH2, in transcription-coupled repair. Cancer Res 57: 3784-3791.

105. Lerman, C., Marshall, J., Audrain, J., Gomez-Caminero, A. (1996). Genetic testing for colon cancer susceptibility: anticipated reactions of patients and challenges to providers. Int J Cancer 69: 59-61.

106. Li, G.M., Modrich, P. (1995). Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Proc Natl Acad Sci USA 92: 1950-1954.

107. 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., Vogelstein, B. (1994). hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 54: 4590- 4594.

108. Liu, B., Farrington, S.M., Petersen, G.M., Hamilton, S.R., Parsons, R., Papadopoulos, N., Fujiwara, T., Jen, J., Kinzler, K.W., Wyllie, A.H., Vogelstein, B., Dunlop, M.G. (1995). Genetic instability occurs in the majority of young patients with colorectal cancer. Nature Med 1(4): 348- 352.

109.Liu, B., Nicolaides, N.C., Markowitz, S., Willson, J.K.V., Parsons, R.E., Jen, J., Papadopoulos, N., Peltomäki, P., de la Chapelle, A., Hamilton, S.R., Kinzler, K.W., Vogelstein, B. (1995). Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet 9: 48- 55.

110. Liu, B., Parsons, R., Papadopoulos, N., Nicolaides, N.C., Lynch, H.T., Watson, P., Jass, J.R., Dunlop, M., Wyllie, A., Peltomäki, P., de la Chapelle, A., Hamilton, S.R., Vogelstein, B., Kinzler, K,W. (1996). Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med 2(2): 169-174.

111. Lodish, H., Baltimore, D., Berk, A., Zipursky, S.L., Matsudaira, P., Darnell, J. (1995). Molecular Cell Biology. New York, W.H. Freeman and Co.

112. Loeb, L.A. (1991). Mutator phenotype may be required for multistage carcinogenesis. Cancer Res 51: 3075-3079.

113. Loeb, L.A. (1994). Microsatellite instability: marker of a mutator phenotype in cancer. Cancer Res 54: 5059-5063.

114. Losi, L., Ponz de Leon, M., Jiricny, J., Di Gregorio, C., Benatti, P., Percesepe, A., Fante, R., Roncucci, L., Pedroni, M., Benhattar, J. (1997). K-ras and p53 mutations in hereditary nonpolyposis colorectal cancers. Int J Cancer 74: 94-96.

115. Lovett, E. (1976). Family studies in cancer of the colon and rectum. Br J Surg 63: 13-18.

116. 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., Boland, C.R. (1995). In vitro transcription/translation assay for screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology 109: 1368- 1374.

117. Luce, M.C., Binnie, C.G., Cayounette, M.C., Kam-Morgan, L.N.W. (1996). Identification of DNA mismatch repair gene mutations in hereditary nonpolyposis colorectal cancer patients. Int J Cancer 69: 50-52.

118. Lynch, H.T., Shaw, M.W., Magnuson, C.W., Larsen, A.L., Krush, A.J. (1966). Hereditary factors in cancer: study of two large midwestern kindreds. Arch Intern Med 117: 206-212.

119. Lynch, H.T., Bardawil, W.A., Harris, R.E., Lynch, P.M., Guirgis, H.A., Lynch, J.F. (1978). Multiple primary cancers and prolonged survival: familial colonic and endometrial cancers. Dis Colon Rectum 21: 165-168.

120. Lynch, H.T., Kriegler, M., Christiansen, T.A., Smyrk, T., Lynch, J.F., Watson, P. (1988). Laryngeal carcinoma in a Lynch syndrome II kindred. Cancer 62: 1007-1013.

121. Lynch, H.T., Smyrk, T.C., Watson, P., Lanspa, S.J., Lynch, J.F., Lynch, P.M., Cavalieri, R.J., Boland, C.R. (1993). Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterol 104: 1535- 1549.

122. Lynch, H.T., Lynch, J. (1995). Genetics, natural history, surveillance, management, and gene mapping in the lynch syndrome. Path Biol 43(3): 151-158.

123. Lynch, H.T., Smyrk, T., Lynch, J., Fitzgibbons Jr., R., Lanspa, S., McGinn, T. (1995). Update on the differential diagnosis, surveillance and management of hereditary non-polyposis colorectal cancer. Eur J Cancer 31A(7/8): 1039- 1046.

124. Lynch, H.T., Lemon, S., Smyrk, T., Franklin, B., Karr, B., Lynch, J., Slominski-Caster, S., Murphy, P., Connolly, C. (1996). Genetic counseling in hereditary nonpolyposis colorectal cancer: an extended family with MSH2 mutation. Am J Gastroenterol 91(12): 2489-2493.

125. Lynch, H.T., Smyrk, T. (1996). Hereditary nonpolyposis colorectal cancer (Lynch-syndrome) an updated review. Cancer 78(6): 1149-1167.

126. Lynch, H.T., Smyrk, T., Lynch, J.F. (1996). Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch-syndrome). Int J Cancer 69: 38- 43.

127. Lynch, J., Lynch H.T. (1994). Genetic counseling and HNPCC. Anticancer Res 14: 1651-1656.

128. MacPhee, M., Chepenik, K., Liddell, R., Nelson, K., Siracusa, L., Buchberg, A. (1995). The secretory phospholipase A2 gene is a candidate for teh MOM1 locus, a major modifier of ApcMIN-induced intestinal neoplasia. Cell 81: 957-966.

129. Maher, E.R., Morson, B., Beach, R., Hodgson, S.V. (1992). Phenotypic variation in hereditary nonpolyposis colon cancer syndrome: association with infiltrative fibromatosis (desmoids tumor). Cancer 69: 2049-2051.

130. Maliaka, Y.K., Chudina, A.P., Belev, N.F., Alday, P., Bochkov, N.P., Buerstedde, J.-M. (1996). CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. Hum Genet 97: 251- 255.

131. Markowitz, S., Wang, J., Myeroff, L., Parsons, R., Sun, L., Lutterbaugh, J., Fan, R.S., Zborowska, E., Kinzler, K.W., Vogelstein, B., Brattain, M., Willson, J.K.V. (1995). Inactivation of the type II TGF-b receptor in colon cancer cells with microsatellite instability. Science 268: 1336- 1338.

132. Martiner, M.E., McPherson, R.S., Annegers, J.F., Levin, B. (1995). Cigarette smoking and alcohol consumption as risk factors for colorectal adenomatous polyps. J Natl Cancer Inst 87: 274-279.

133. Mary, J.L., Bishop, T., Kolodner, R., Lipford, J.R., Kane, M., Weber, W., Torhorst, J., Müller, H., Spycher, M., Scott, R.J. (1994). Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. Hum Mol Genet 3(11): 2067- 2069.

134. Mazoyer, S., Dunning, A.M., Serova, O., Dearden, J., Puget, N., Healey, C.S., Gayther, S.A., Mangion, J., Stratton, M.R., Lynch, H.T., Goldgar, D.E., Ponder, B.A.J., Lenoir, G.M. (1996). A polymorphic stop codon in BRCA2. Nat Genet 14: 253-254.

135. Mecklin, J.P., Jarvinen, H.J. (1986). Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum 29: 160-164.

136. Meling, G.I., Lothe, R.A., Borresen, A.-L., Hauge, S., Graue, C., Clausen, O.P., Rognum, T.O. (1991). Genetic alterations within the retinoblastoma locus in colorectal carcinomas. Relation to DNA ploidy pattern studied by flow cytometric analysis. Br J Cancer 64: 475-480.

137. Mellon, I., Spivak, G., Hanawalt, P.C. (1987). Selective removal of transcription-blocking DNA damage from transcribed strand of the mammalian DHFR gene. Cell 51: 241-249.

138. Mellon, I., Rajpal, D.K., Koi, M., Boland, C.R., Champe, G.N. (1996). Transcription-coupled repair deficiency and mutations in human mismatch repair genes. Science 272: 557- 560.

139. Miyaki, M., Konishi, M., Muraoka, M., Kikuchi- Yanoshita, R., Tanaka, K., Iwama, T., Mori, T., Koike, M., Ushio, K., Chiba, M., Nomizu, S., Utsunomiya, J. (1995). Germ line mutations of hMSH2 and hMLH1 genes in Japanese families withe hereditary nonpolyposis colorectal cancer ( HNPCC ): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. J Mol Med 73: 515- 520.

140. Miyaki, M., Konishi, M., Tanaka, K., Kikuchi-Yanoshita, R., Muraoka, M., Yasuno, M., Igari, T., Koike, M., Chiba, M., Mori, T., (1997). Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17(3): 271-272.

141. Modrich, P. (1991). Mechanisms and biological effects of mismatch repair. Annu Rev Genet 25: 229- 253.

142. Moisio, A.-L., Sistonen, P., Weissenbach, J., de la Chapelle, A., Peltomäki, P. (1996). Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 59: 1243-1251.

143. Mori, Y., Shiwaku, H., Fukushige, S., Wakatsuki, S., Sato, M., Nukiwa, T., Horii, A. (1997). Alternative splicing of hMSH2 in normal human tissues. Hum Genet 99: 590-595.

144. Morson, B.C. (1984). The evolution of colorectal carcinoma. Clin Radiol 35: 425-431.

145. Nagamine, C.M., Chan, K., Lau, Y.-F.C (1989). A PCR artifact: generation of heteroduplexes. Am J Hum Genet 45: 337- 339.

146. National Advisory council for human genome research (1994). Statement on use of DNA testing for presymptomatic identification of cancer risk. JAMA 271(10): 785.

147. Neumaier, M., Paululat, S., Chan, A., Matthaes, P., Wagener, C. (1993). Biliary-glycoprotein, a potential human cell adhesion molecule, is down-regulated in colorectal carcinomas. Proc Natl Acad Sci USA 90: 10744-10748.

149. Nicolaides, N., 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, A.D., Venter, J.C., Dunlop, M.G., Hamilton, S.R., Petersen, G.M., de la Chapelle, A., Vogelstein, B., Kinzler, K. (1994). Mutations of two PMS homologues in hereditary nonpoplyposis colon cancer. Nature 371: 75- 80.

149. Nigro, J.M., Baker, S.J., Preisinger, A.C., Jessup, J.M., Hostetter, R., Cleary, K., Bigner, S.H., Davidson, N., Baylin, S., Devilee, P., Glover, T., Collins, F.S., Weston, A., Modali, R., Harris, C.C., Vogelstein, B. (1989). Mutations in the p53 gene occur in diverse human tumour types. Nature 342: 705-708.

150. Nishisho, I., Nakamura, Y., Miyoshi, Y., Miki, Y., Ando, H., Horii, A., Koyama, K., Utsunomiya, J., Baba, S., Hedge, P. (1991). Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665-669.

151. Nishiwaki, Y., Kamino, K., Yoshiiwa, A., Nagano, K., Takeda, M., Tanabe, H., Nishimura, T., Kobayashi, T., Yamamoto, H., Nonomura, Y., Yoneda, H., Sakai, T., Imagawa, M., Miki, T., Ogihara, T. (1996). Mutational screening of APP gene in patients with early-onset Alzheimer disease utilizing mismatched PCR-RFLP. Clin Genet 49(3): 119-123.

152. Nollau, P., Moser, C., Wagener, C. (1996). Isolation of DNA from stool and bodily fluids for PCR amplification. Biotechniques 20: 784-788.

153. Nollau, P., Moser, C., Weinland, G., Wagener, C. (1996). Detection of K-ras mutations in stools of patients with colorectal cancer by mutant-enriched PCR. Int J Cancer 66(3): 332-336.

154. Nyström-Lahti, M., Sistonen, P., Mecklin, J.P., Pylkkänen, L., Aaltonen, L.A., Järvinen, H., Weissenbach, J., de la Chapelle, A., Peltomäki, P. (1994). Close linkage to chromosome 3p and conversation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families. Proc Natl Acad Sci USA 91: 6054- 6058.

155. Nyström-Lahti, M., Kristo, P., Nicolaides, N.C., Chang, S.-Y., Aaltonen, L.A., Moisio, A.-L., Järvinen, H.J., Mecklin, J.-P., Kinzler, K.W., Vogelstein, B., de la Chapelle, A., Peltomäki, P. (1995). Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nature Med 1(11): 1203- 1206.

156. Nyström-Lahti, M., Wu, Y., Moisio, A.-L., Hofstra, M.W., Osinga, J., Mecklin, J.-P., Järvinen, H.J., Leisti, J., Buys, C.H.C.M., de la Chapelle, A., Peltomäki, P. (1996). DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 5(6): 763-769.

157. Oltval, Z.N., Milliman, C.L., Korsmeyer, S.J. (1993). Bcl-2 heterodimerizes in vivo with a conserved homolog, BAX, that accelerates programed cell death. Cell 74: 609-619.

158. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., Sekiya, T. (1989). Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms. Proc Natl Acad Sci USA 86: 2766- 2770.

159. Oshima, M., Dinchuk, J.E., Kargman, S.L., Oshima, H., Hancock, B., Kwong, E., Trzaskos, J.M., Evans, J.F., Taketo, M.M. (1996). Suppression of intestinal polyposis in Apc D 716 knockout mice by inhibition of cyclooxygenase 2 (cox-2). Cell 87: 803-809.

160. Oudejans, J.J., Slebos, R.J.C., Zoetmulder, A.N., Mooi, W.J., Rodenhuis, S (1991). Differential activation of ras genes by point mutation in human cancer with metastases to either lung or liver. Int J Cancer 49: 875-879.

161. Palombo, F., Galliniari, P., Iaccarino, I., Lettieri, T., Hughes, M., D'Arrigo, A., Truong, O., Hsuan, J.J., Jiricny, J. (1995). GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268: 1912-1914.

162. 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., Peltomäki, P., Mecklin, J.-P., de la Chapelle, A. (1994). Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625- 1629.

163. Papadopoulos, N., Leach, F.S., Kinzler, K.W., Vogelstein, B. (1995). Monoallelic mutation analysis (MAMA) for identifying germline mutations. Nature Genet 11: 99-102.

164. Papadopoulos, N., Lindblom, A. (1997). Molecular basis of HNPCC: mutations of MMR genes. Hum Mutat 10: 89- 99.

165. Parsons, R., Li, G.-M., Longley, M.J., Fang, W.-H., Papadopoulos, N., Jen, J., de la Chapelle, A., Kinzler, K.W., Vogelstein, B., Modrich, P. (1993). Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75: 1227- 1236.

166. Parsons, R., Li, G.-M., Longley, M., Modrich, P., Liu, B., Berk, T., Hamilton, S.R., Kinzler, K.W., Vogelstein, B. (1995). Mismatch repair deficiency in phenotypically normal human cells. Science 268: 738-740.

167. Parsons, R., Myeroff, L.L., Liu, B., Willson, J.K., Markowitz, S.D., Kinzler, K.W., Vogelstein, B. (1995). Microsatellite instability and mutations of the transforming growth factor b type II receptor gene in colorectal cancer. Cancer Res 55: 5548-5550.

168. Peltomäki, P., Lothe, R.A., Aaltonen, L.A., Pylkkänen, L., Nyström- Lahti, M., Seruca, R., David, L., Holm, R., Ryberg, D., Haugen, A., Brogger, A., Borresen, A.-L., de la Chapelle, A. (1993). Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res 53: 5853- 5855.

169. Peltomäki, P., de la Chapelle, A. (1997). Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res 71: 93-119.

170 Peltomäki, P., Vasen, H.F.A., ICG-HNPCC (1997). Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology 113: 1146-1158.

171. Petersen, G.M., Francomano, C., Kinzler, K., Nakamura, Y. (1993). Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis. Human Genet 91: 307-311.

172. Petersen, G.M. (1996). Genetic counseling and predictive testings for colorectal cancer risk. Int J Cancer 69: 53-54.

173. Ponder, B.A.J., Wilkinson, M.M. (1986). Direct examination of the clonality of carcinogen-induced colonic epithelial dysplasia in chimeric mice. J Natl Cancer Inst 77: 967-976.

174. Ponz de Leon, M., Sassatelli, R., Benatti, P., Roncucci, L. (1993). Identification of hereditary nonpolyposis colorectal cancer in the general population: 6-year experience of a population-based registry. Cancer 71: 3493-3501.

175. Powell, S.M., Zilz, N., Beazer-Barclay, Y., Bryan, T.M., Hamilton, S.R., Thibodeau, S.N., Vogelstein, B., Kinzler, K.W. (1992). APC mutations occur early during colorectal tumorigenesis. Nature 359: 235-237.

176. Powell, S.M., Petersen, G.M., Krush, A.J., Booker, S., Jen, J., Giardiello, F.M., Hamilton, S.R., Vogelstein, B., Kinzler, K. (1993). Molecular Diagnosis of Familial Adenomatous Polyposis. New Engl J Med 329(27): 1982- 1987.

177. Rampino, N., Yamamoto, H., Ionov, Y., Li, Y., Sawal, H., Reed, J.C., Perucho, M. (1997). Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science 275: 967-969.

178. Rayssiguier, C., Thaler, D.S., Radman, M. (1989). The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutants. Nature 342: 396-401.

179. Reiss, J., Krawczak, M., Schloesser, M., Wagner, M., Cooper, D.N. (1990). The effect of replication errors on the mismatch analysis of PCR-amplified DNA. Nucleic Acids Res. 18: 973-978.

180. Rhyu, M.S. (1996). Molecular mechanisms underlying hereditary nonpolyposis colorectal carcinoma. J Natl Cancer Inst 88(5): 240-251.

181. Risinger, J.I., Umar, A., Barrett, L.C., Kunkel, T.A. (1995). A hPMS2 mutant cell line is defective in strand-specific mismatch repair. J Biol Chem 270: 18183-18186.

182. Roest, P.A., Roberts, R. G., Sugino, S., van Ommen, G. J., den Dunnen, J. T. (1993). Protein Truncation Test (PTT) for rapid detection of translation-termination mutations. Hum Mol Genet 2(10): 1719- 1721.

183. Royds, J.A., Sharrard, M., Wagner, B., Polacarz, S.V. (1992). Cellular localisation of c-myc product in human colorectal epitelial neoplasia. J Pathol 166: 225-233.

184. Saiki, R.K., Gelfand, D.H., Stoffel, S., Scharf, S.J., Higushi, R., Horn, G. T., Mullis, K. B., Ehrlich, H. A. (1988). Primer directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487.

185. Sambrook, J., Fritsch, E.F., Maniatis, T. (1989). Molecular cloning, a laboratory manual. Cold Spring Harbor, Cold Spring Harbor Laboratory Press.

186. Sancar, A., Sancar, G.B. (1988). DNA repair enzymes. Annu Rev Biochem 57: 29-67.

187. Sanger, F., Niklen, S., and Coulson, A.R. (1977). DNA-Sequencing with chain-termination inhibitors. Proc Natl Acad Sci USA 74: 5463-5467.

188. Sankila, R., Aaltonen, L.A., Järvinen, H.J., Mecklin, J.-P. (1996). Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology 110: 682- 687.

189. Scapoli, C., Ponz de Leon, M., Sassatelli, R., Benatti, P., Roncucci, L., Collins, A., Morton, N.E., Barrai, I. (1994). Genetic epidemiology of hereditary non-polyposis colorectal cancer syndromes in Modena, Italy: resulty of a complex segregation analysis. Ann Hum Genet 58: 275-295.

190. Scapoli, C., Collins, A., Benatti, P., Percesepe, A., Roncucci, L., Ponz de Leon, M. (1997). A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy. Ann Hum Genet 61: 109-119.

191. Schweinfest, C.W., Henderson, K.W., Suster, S., Kondoh, N., Papas, T.S. (1993). Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. Proc Natl Acad Sci USA 90: 4166-4170.

192. Seeberg, E., Eide, L., Bjoras, M. (1995). The base excision repair pathway. Trends Biochem Sci 20: 391-397.

193. Sharpe, N.F. (1994). Psychological aspects of genetic counseling: a legal perspective. Am J Med Genet 50: 234-238.

194. Sheffield, V.C., Beck, J.S., Kwitek, A.E., Sandstrom, D.W., Stone, E.M. (1993). The sensitivity of single standed conformation polymorphism analysis for the detection of single base substitutions. Genomics 16: 325-332.

195. Smith, G.P. (1973). Unequal crossover and the evolution of multigene families. Cold Spring Harb Symp Quant Biol 38: 507-513.

196. Stephenson, B.M., Finan, J.P., Gascoyne, J., Garbett, F., Murday, V.A., Bishop, D.T. (1991). Frequency of familial colorectal cancer. Br J Surg 78: 1162-1166.

197. St. John, D.J.B., McDermott, F.T., Hopper, J.L., Debney, E.A., Johnson, W.R., Hughes, E.S.R., (1993). Cancer risk in relatives of patients with common colorectal cancer. Ann Int Med 118: 785-790.

198. Strand, M., Prolla, T.A., Liskay, R.M., Petes, T.D. (1993). Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365: 274- 276.

199. Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., Inouye, M. (1966). Frameshift mutations and the genetic code. Cold Spring Harb Symp Quant Biol 31: 77-84.

200. Stryer, L. (1995). Biochemistry. 4, New York, W.H. Freeman and Co.

201. Sugarbaker, J.P., Gunderson, L.L., Wittes, R.E. (1985). Colorectal cancer. Principles and practices of oncology. Devita, V.T., Hellmann, S., Rosenberg, S.A. Philadelphia, Lippincott, J.B.: 800-803.

202. Tannergard, P., Lipford, J.R., Kolodner, R., Frödin, J.E., Nordenskjöld, M., Lindblom, A. (1995). Mutation screening in the hMLH1 gene in swedish hereditary nonpolyposis colon cancer families. Cancer Res 55: 6092- 6096.

203. Tannergard, P., Nordenskjöld, M., Lindblom, A. (1995). Finnish mutations in swedish HNPCC families. Nature Med 1(11): 1104.

204. Teh, E.M., Dolphin, P.J., Breckenridge, W.C., Tan, M.H. (1998). Human plasma CETP deficiency: identification of a novel mutation in exon 9 of the CETP gene in a caucasian subject from north america. J Lipid Res 39(2): 442-456.

205. The World Federation of Neurology Research Group on Huntington‘s Diseaes (1993). Presymptomatic testing for Huntington's disease: a world wide survey. J Med Genet 30(12): 1020-1022.

206. Thibodeau, S.N., Bren, G., Schaid, D. (1993). Microsatellite instability in cancer of the proximal colon. Science 260: 816- 819.

207. Thies, U., Bockel, B., Bochdalofsky, V. (1993). Attitudes of neurologists, psychiatrists, and psychotherapists towards predictive testing for Huntington‘s disease in Germany. J Med Genet 30(12): 1023-1027.

208. Timme, T.L., Moses, R.E. (1988). Diseases with DNA damage-processing defects. Am J Med Sci 295(1): 40-48.

209. Tomlinson, I.P.M., Beck, N.E., Homfray, T., Harocopos, C.J., Bodmer, W.F. (1997). Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. J Med Genet 34: 39-42.

210. Toribara, N.W., Sleisinger, M.H. (1995). Screening for colorectal cancer. New Engl J Med 332(13): 861- 867.

211. Turesky, R.J., Lang, N., Butler, M., Teitel, C.H., Kadlubar, F.F. (1991). Metabolic activation of carcinogenic heterocyclic aromatic amines by human liver and colon. Carcinogenesis 12: 1417-1422.

212. Umar, A., Boyer, J.C., Kunkel, T.A. (1994). DNA loop repair by human cell extracts. Science 266: 814-816.

213. Urban, T., Ricci, S., Grange, J.D., Lacave, R., Boudghene, F., Breittmayer, F., Languille, O., Roland, J., Bernaudin, J.F. (1993). Detection of c-Ki-ras mutations by PCR/RFLP analysis and diagnosis of pancreatic adenocarcinomas. Int J Cancer 85(24): 2008-2012.

214. Van de Water, N.S., Jeevaratnam, P., Browett, P.J., Stewart, S.M., Lane, M.R., Jass, J.R. (1994). Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer. Aust NZ J Med 24: 682- 686.

215. Vasen, H.F.A., Mecklin, J.-P., Meera Khan, P., Lynch, H.T. (1991). The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34: 424- 425.

216. Vasen, H.F.A., Wijnen, J.T., Menko, F.H., Kleibeuker, J.H., Taal, B.G., Griffioen, G., Nagengast, F.M., Meijers-Heijboer, E.J., Bertario, L., Varesco, L., Bisgaard, M., Mohr, J., Fodde, R., Meera Khan, P. (1996). Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutational analysis. Gastroenterology 110: 1020-1027.

217. Velazquez, O.C., Lederer, H.M., Rombeau, J.L. (1996). Butyrate and the coionocyte. Digest Dis Sci 41: 727-739.

218. Vogelstein, B., Gillespie, D. (1979). Preparative and analytical purification of DNA from agarose. Proc Natl Acad Sci USA 76: 615-619.

219. Vogelstein, B., Fearson, E.R., Hamilton, S.R., Kern, S.E., Preisinger, C., Leppert, M., Nakamura, Y., White, R., Smits, A.M.M., Bos, J.L. (1988). Genetic alterations during colorectal-tumor development. New Engl J Med 319(9): 525- 532.

220. Wahlberg, S.S., Nyström-Lahti, M., Kane, M.F., Kolodner, R.D., Peltomäki, P., Lindblom, A. (1997). Low frequency of hMSH2 mutations in swedish HNPCC families. Int J Cancer 74: 134-137.

221. Warthin, A.S. (1913). Heredity with reference to carcinoma. Arch Intern Med 12: 546-555.

222. Watne, A.L. (1997). Colon Polyps. J Surg Oncol 66: 207-214.

223. Weber, J.L., May, P.E. (1989). Abundant class of human DNA polymorphisms which can be typed using polymerase chain reaction. Am Hum Gent 44: 338-396.

224. Weber, T.K., Conlon, W., Petrelli, N.J., Rodriguez-Bigas, M., Keitz, B., Pazik, J., Farrell, C., O'Malley, L., Oshalim, M., Abdo, M., Anderson, G., Stoler, D., Yandell, D. (1997). Genomic DNA-based hMSH2 and hMLH1 mutations screening in 32 eastern united states hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 57: 3798-3803.

225. Wehner, M., Buschhausen, L., Lamberti, C., Kruse, R., Caspari, R., Propping, P., Friedl, W. (1997). Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes. Human Mutat 10: 241-244.

226. Weinberg, R.A. (1989). Oncogenes, antioncogenes, and the molecular bases of multistep carcinogenesis. Cancer Res 49: 3713-3721.

227. Whitehouse, A., Taylor, G.R., Deeble, J., Phillips, S.E.V., Meredith, D.M., Markham, A.F. (1996). A carboxy terminal domain of the hMSH-2 gene product is sufficient for binding specific mismatched oligonucleotides. Biochem Biophys Res Commu 225: 289-295.

228. Whitehouse, A., Deeble, J., Taylor, G.R., Guillou, P.J., Phillips, S.E.V., Meredith, D.M., Markham, A.F. (1997). Mapping the minimal domain of the hMSH-2 sufficient for binding mismatched oligonucleotids. Biochem Biophys Res Commu 232: 10-13.

229. Whitelaw, S.C., Northover, J.M.A. (1994). The NM23 gene and colorectal cancer. Gut 35: 141.

230. Wijnen, J., Fodde, R., Meera Khan, P. (1994). DGGE polymorphism in intron 10 of MSH2, the HNPCC gene. Hum Mol Genet 3: 2268.

231. Wijnen, J., Khan, P.M., Vasen, H., Menko, F., van der Klift, H., van den Broek, M., van Leeuwen-Cornelisse, I., Nagengast, F., Meijers-Heijboer, E.J., Lindhout, D., Griffioen, G., Cats, A., Kleibeuker, J., Varesco, L., Bertario, L., Bisgaard, M.-L., Mohr, J., Kolod (1996). Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet 58: 300- 307.

232. Winawer, S.J., Zauber, A.G., Ho, M.N., O‘Brien, M.J., Gottlieb, L.S., Sternberg, S.S., Waye, J.D., Schapiro, M., Bond, J.H., Panish, J.F., Ackroyd, F., Shike, M., Kurtz, R.C., Hornsby-Lewis, L., Gerdes, H., Steward, E.T., NPSW (1993). Prevention of colorectal cancer by colonoscopic polypectomy. New Engl J Med 329: 1977-1981.

233. Wingo, P.A., Tong, T., Bolden, S. (1995). Cancer statistics 1995. CA Cancer J Clin 45: 8-30.

234. Xia, L., Shen, W., Ritacca, F., Mitri, A., Madlensky, L., Berk, T., Cohen, Z., Gallinger, S., Bapat, B. (1996). A truncated hMSH2 transcript occurs as a common variant in the population: Implications for genetic diagnosis. Cancer Res 56: 2289- 2292.

235. Yagi, O.K., Akiyama, Y., Nomizu, T., Iwama, T., Endo, M., Yuasa, Y. (1998). Proapoptotic gene BAX is frequenctly mutated in hereditary nonpolyposis colorectal cancers but not in adenomas. Gastroenterology 114: 268-274.

236. Zhong, S., Wyllie, A.H., Barnes, D., Wolf, C.R., Spurr, N.K., (1993). Relationship between the GSTM1 genetic polymorphism and susceptibility to bladder, breast and colon cancer. Carcinogenesis 14: 1821-1824.

237. Zhou, K.-P., Hoang, J.-M., Cottu, P., Thomas, G., Hamelin, R. (1997). Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumors with and without replication errors. Oncogene 15: 1713-1718.