Genetic and epigenetic contributions to colorectal cancer

APMIS

Volumn 107, Issue 8, 1999, Pages 711-722

  Dumont, Nancy ^a,b  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Colorectal carcinoma; Epigenetic; Mismatch repair; Oncogene; Transforming growth factor ; Tumor suppressor gene

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA;

CANCER GENETICS; CARCINOGENESIS; CHROMOSOME ABERRATION; COLORECTAL CANCER; DNA REPAIR; GENE ACTIVITY; GENE LOSS; PRIORITY JOURNAL; PROTO ONCOGENE; RECEPTOR UPREGULATION; REVIEW; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

EID: 0032870022     PISSN: 09034641     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1699-0463.1999.tb01466.x     Document Type: Review

References (110)

1. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759-67.
2. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996;87:159-70.
3. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.
4. Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-9.
5. Solomon E, Voss R, Hall V, Bodmer WF, Jass JR, Jeffreys AJ, et al. Chromosome 5 allele loss in human colorectal carcinomas. Nature 1987;328:616-9.
6. Ashton-Rickardt PG, Dunlop MG, Nakamura Y, Morris RG, Purdie CA, Steel CM, et al. High frequency of APC loss in sporadic colorectal carcinoma due to breaks clustered in 5q21-22. Oncogene 1989;4:1169-74.
7. Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, et al. APC mutations occur early during colorectal tumorigenesis. Nature 1992;359:235-7.
8. Howe JR, Guillem JG. The genetics of colorectal cancer. Surg Clin North Am 1997;77:175-95.
9. Miyoshi Y, Nagase H, Ando H, Horii A, Ichii S, Nakatsuru S, et al. Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet 1992;1:229-33.
10. Murakami R, Tsukuma H, Kanamori S, Imanishi K, Otani T, Nakanishi K, et al. Natural history of colorectal polyps and the effect of polypectomy on occurrence of subsequent cancer. Int J Cancer 1990;46:159-64.
11. Su LK, Kinzler KW, Vogelstein B, Preisinger AC, Moser AR, Luongo C, et al. Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science 1992;256:668-70.
12. Pretlow TP, Barrow BJ, Ashton WS, O'Riordan MA, Pretlow TG, Jurcisek JA, et al. Aberrant crypts: putative preneoplastic foci in human colonic mucosa. Cancer Res 1991;51:1564-7.
13. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951-7.
14. Dietrich WF, Lander ES, Smith JS, Moser AR, Gould KA, Luongo C, et al. Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell 1993;75:631-9.
15. Min-induced intestinal neoplasia. Cell 1995;81:957-66.
16. Nakamura Y. The role of the adenomatous polyposis coli (APC) gene in human cancers. Adv Cancer Res 1993;62:65-87.
17. Rubinfeld B, Albert I, Porfiri E, Fiol C, Munemitsu S, Polakis P. Binding of GSK-3β to the APC-β-catenin complex and regulation of complex assembly. Science 1996;272:1023-5.
18. Korinek V, Barker N, Morin PJ, van Wichen D, de Weger R, Kinzler KW, et al. Constitutive transcriptional activation by a β-catenin-Tcf complex in APC -/- colon carcinoma. Science 1997;275:1784-7.
19. Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B, et al. Activation of β-catenin-Tcf signaling in colon cancer by mutations in β-catenin or APC. Science 1997;275:1787-90.
20. Iwao K, Nakamori S, Kameyama M, Imaoka S, Kinoshita M, Fukui T, et al. Activation of the β-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations. Cancer Res 1998;58:1021-6.
21. Morin PJ, Vogelstein B, Kinzler KW. Apoptosis and APC in colorectal tumorigenesis. Proc Natl Acad Sci USA 1996;93:7950-4.
22. Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, et al. Genetic alterations during colorectal tumor development. N Engl J Med 1988;319:525-32.
23. Bos JL, Fearon ER, Hamilton SR, Verlaan-de Vries M, van Boom JH, van der Eb AJ, et al. Prevalence of ras gene mutations in human colorectal cancers. Nature 1987;327:293-7.
24. Miyaki M, Seki M, Okamoto M, Yamanaka A, Maeda Y, Tanaka K, et al. Genetic changes and histopathological types in colorectal tumors from patients with adenomatous polyposis. Cancer Res 1990;50:7166-73.
25. Shpitz BHK, Medline A, Bruce WR, Bull SB, Gallinger S, Stern H. Natural history of aberrant crypt foci. Dis Colon Rectum 1996;39:763-7.
26. Kern SE, Fearon ER, Tersmette KW, Enterline JP, Leppert M, Nakamura Y, et al. Clinical and pathological associations with allelic loss in colorectal carcinoma. JAMA 1989;261:3099-103.
27. Jen J, Kim H, Piantadosi S, Liu ZF, Levitt RC, Sistonen P, et al. Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med 1994;331:213-21.
28. Fearon ER, Cho KR, Nigro JM, Kern SE, Simons JW, Ruppert JM, et al: Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 1990;247:49-56.
29. Fearon ER, Ekstrand BC, Hu G, Pierccall WE, Reale MA, Bigner SH. Studies of the deleted in colorectal cancer gene in normal and neoplastic tissues. Cold Spring Harbor Symp Quant Biol 1994;59:637-43.
30. Fazeli A, Dickinson SL, Hermiston ML, Tighe RV, Steen RG, Small CG, et al. Phenotype of mice lacking functional Deleted in colorectal cancer (Dcc) gene. Nature 1997;386:796-804.
31. Kikuchi-Yanoshita R, Konishi M, Fukunari H, Tanaka K, Miyaki M. Loss of expression of the DCC gene during progression of colorectal carcinomas in familial adenomatous polyposis and non-familial adenomatous polyposis patients. Cancer Res 1992;52:3801-3.
32. Eppert K, Scherer SW, Ozcclik H, Pirone R, Hoodless P, Kim H, et al. MADR2 maps to 18q21 and encodes a TGFβ-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell 1996;86:543-52.
33. Thiagalingam S, Lengauer C, Leach FS, Schutte M, Hahn SA, Overhauser J, et al. Evaluation of candidate tumor suppressor genes on chromosome 18 in colorectal cancers. Nat Genet 1996;13:343-6.
34. Massague J. TGF-β signal transduction. Annu Rev Biochem 1998;67:753-91.
35. Massague J. The transforming growth factor-beta family. Annu Rev Cell Biol 1990;6:597-641.
36. Filmus J, Kerbel RS. Development of resistance mechanisms to the growth-inhibitory effects of transforming growth factor-β during tumor progression. Curr Opin Oncol 1993;5:123-9.
37. Hoosein NM, McKnight MK, Levine AE, Mulder KM, Childress KE, Brattain DE, et al. Differential sensitivity of subclasses of human colon carcinoma cell lines to the growth inhibitory effects of transforming growth factor-β1. Exp Cell Res 1989;181:442-53.
38. Takaku K, Oshima M, Miyoshi H, Matsui M, Seldin MF, Taketo MM. Intestinal tumorigenesis in compound mutant mice of both Dpc4 (Smad4) and Apc genes. Cell 1998;92:645-56.
39. Takagi Y, Kohmura H, Futamura M, Kida H, Tanemura H, Shimokawa K, et al. Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. Gastroenterology 1996;111:1369-72.
40. MacGrogan D, Pegram M, Slamon D, Bookstein R. Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas. Oncogene 1997;15:1111-4.
41. Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280:1086-8.
42. Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE, Hamilton SR, et al. Mad-related genes in the human. Nat Genet 1996;13:347-9.
43. Riggins GJ, Kinzler KW, Vogelstein B, Thiagalingam S. Frequency of Smad gene mutations in human cancers. Cancer Res 1997;57:2578-80.
44. Arai T, Akiyama Y, Okabe S, Ando M, Endo M, Yuasa Y. Genomic structure of the human Smad3 gene and its infrequent alterations in colorectal cancers. Cancer Lett 1998;122:157-63.
45. Zhu Y, Richardson JA, Parada LF, Graff JM. Smad3 mutant mice develop metastatic colorectal cancer. Cell 1998;94:703-14.
46. Lu SL, Akiyama Y, Nagasaki H, Saitoh K, Yuasa Y. Mutations of the transforming growth factor-β type II receptor gene and genomic instability in hereditary nonpolyposis colorectal cancer. Biochem Biophys Res Comm 1995;216:452-7.
47. Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, et al. Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science 1995;268:1336-8.
48. Parsons R, Myeroff LL, Liu B, Willson JK, Markowitz SD, Kinzler KW, et al. Microsatellite instability and mutations of the TGF-β type II receptor gene in colorectal cancer. Cancer Res 1995;55:5548-50.
49. Wang J, Sun L, Myeroff L, Wang X, Gentry LE, Yang J, et al. Demonstration that mutation of the type II TGF-β receptor inactivates its tumor suppressor activity in replication error-positive colon carcinoma cells. J Biol Chem 1995;270:22044-9.
50. Wu SP, Theodorescu D, Kerbel RS, Willson JK, Mulder KM, Humphrey LE, et al. TGF-βbeta1 is an autocrine-negative growth regulator of human colon carcinoma FET cells in vivo as revealed by transfection of an anti-sense expression vector. J Cell Biol 1992;116:187-96.
51. Vogelstein B, Fearon ER, Kern SE, Hamilton SR, Preisinger AC, Nakamura Y, et al. Allelo-type of colorectal carcinomas. Science 1989;244:207-11.
52. Baker SJ, Preisinger AC, Jessup JM, Paraskeva C, Markowitz S, Willson JK, et al. p53 gene mutations occur in combination with 17p allelic deletions as late events in colorectal tumorigenesis. Cancer Res 1990;50:7717-22.
53. Greenblatt MS, Bennett WP, Hollstein M, Harris CC. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res 1994;54:4855-78.
54. Garber JE, Goldstein AM, Kantor AF, Dreyfus MG, Fraumeni JF Jr, Li FP. Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 1991;51:6094-7.
55. Donehower LA, Harvey M, Slagle BL, McArthur MJ, Montgomery CA Jr, Butel JS, et al. Mice deficient in p53 are developmentally normal but susceptible to spontaneous tumors. Nature 1992;356:215-21.
56. Harvey M, Sands AT, Weiss RS, Hegi ME, Wiseman RW, Pantazis P, et al. In vitro growth characteristics of embryo fibroblasts isolated from p53-deficient mice. Oncogene 1993;8:2457-67.
57. Jacks T, Remington L, Williams BO, Schmitt EM, Halachmi S, Bronson RT, et al. Tumor spectrum analysis in p53-mutant-mice. Curr Biol 1994;4:1-7.
58. Sherr CJ. Cancer cell cycles. Science 1996;274:1672-7.
59. Auvinen A, Isola J, Visakorpi T, Koivula T, Virtanen S, Hakama M. Overexpression of p53 and long-term survival in colon carcinoma. Br J Cancer 1994;70:293-6.
60. ntHamelin R, Laurent-Puig P, Olschwang S, Jego N, Asselain B, Remvikos Y, et al. Association of p53 mutations with short survival in colorectal cancer. Gastroenterology 1994;106:42-8.
61. Modrich P. Mechanisms and biological effects of mismatch repair. Annu Rev Genet 1991;25:229-53.
62. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-38.
63. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, et al. Mutations of a matS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-25.
64. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature 1994;368:258-61.
65. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, et al. Mutation of mutL homolog in hereditary colon cancer. Science 1994;263:1625-9.
66. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994;371:75-80.
67. Eshleman JR, Lang EZ, Bowerfind GK, Parsons R, Vogelstein B, Willson JK, et al. Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer. Oncogene 1995;10:33-7.
68. Lanspa SJ, Jenkins JX, Cavalieri RJ, Smyrk TC, Watson P, Lynch J, et al. Surveillance in Lynch syndrome: how aggressive? Am J Gastroenterol 1994;89:1978-80.
69. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812-6.
70. Aaltonen LA, Peltomaki P, Mecklin J, Jarvinen H, Jass JR, Green JS, et al. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 54:1645-8.
71. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558-61.
72. Lothe RA, Peltomaki P, Meling GI, Aaltonen LA, Nystrom-Lahti M, Pylkkanen L, et al. Genomic instability in colorectal cancer: relationship of clinicopathological variables and family history. Cancer Res 1993;53:5849-52.
73. Kim H, Jen J, Vogelstein B, Hamilton SR. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol 1994;145:148-56.
74. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-9.
75. Liu B, Nicolaidis NC, Markowitz S, Wilson JK, Parsons RE, Jen J, et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 1995;9:48-55.
76. Bubb VJ, Curtis LJ, Cunningham C, Dunlop MG, Carothers AD, Morris RG, et al. Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer. Oncogene 1996;12:2641-9.
77. Malkhosyan S, Rampino N, Yamamoto H, Perucho M. Frameshift mutator mutations. Nature 1996;382:499-500.
78. Yamamoto H, Sawai H, Perucho M. Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res 1997;57:4420-6.
79. Yamamoto H, Sawai H, Weber TK, Rodriguez-Bigas MA, Perucho M. Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer. Cancer Res 1998;58:997-1003.
80. Kroser JA, Bachwich DR, Lichtenstein GR. Risk factors for the development of colorectal carcinoma and their modification. Hematol Oncol Clin North Am 1997;11:547-77.
81. Horovitz IL, Huber M. Cancer of the colon: a study of age-related incidence. Dis Colon Rectum 1980;23:76-9.
82. Boyle P, Zaridze DG. Colorectal cancer as a disease of the environment. Ecol Dis 1983;2:241-8.
83. Whittemore AS, Wu-Williams AH, Lee M, Zheng S, Gallagher RP, Jiao DA, et al. Diet, physical activity, and colorectal cancer among Chinese in North America and China. J Natl Cancer Inst 1990;82:915-26.
84. Bidoli E, Franceschi S, Talamini R, Barra S, La Vecchia C. Food consumption and cancer of the colon and rectum in north-eastern Italy. Int J Cancer 1992;50:223-9.
85. Thun MJ, Calle EE, Namboodiri MM, Flanders WD, Coates RJ, Byers T, et al. Risk factors for fatal colon cancer in a large prospective study. J Natl Cancer Inst 1992;84:1491-500.
86. Hague A, Manning AM, Hanlon KA, Huschtscha LI, Hart D, Paraskeva C. Sodium butyrate induces apoptosis in human colonic tumour cell lines in a p53-independent pathway: implications for the possible role of dietary fibre in the prevention of large-bowel cancer. Int J Cancer 1993;55:498-505.
87. Jansson B. Geographic mappings of colorectal cancer rates: a retrospect or studies, 1974-1984. Cancer Detect Prev 1985;8:341-8.
88. Nelson RL. Dietary minerals and colon carcinogenesis. Anticancer Res 1987;7:259-69.
89. Nomura A, Heilbrun LK, Morris JS, Stemmermann GN. Serum selenium and the risk of cancer, by specific sites: case-control analysis of prospective data. J Natl Cancer Inst 1987;79:103-8.
90. Folkman J. What is the evidence that tumors are angiogenesis dependent ? J Natl Cancer Inst 1990;82:4-6.
91. Graeber TG, Osmanian C, Jacks T, Housman DE, Koch CJ, Lowe SW, et al: Hypoxia-mediated selection of cells with diminished apoptotic potential in solid turnouts. Nature 1996;379:88-91.
92. Dameron KM, Volpert OV, Tainsky MA, Bouck N. Control of angiogenesis in fibroblasts by p53 regulation of thrombospondin-1. Science 1994;265:1582-4.
93. Van Meir EG, Polverini PJ, Chazin VR, Su Huang HJ, de Tribolet N, Cavenee WK. Release of an inhibitor of angiogenesis upon induction of wild type p53 expression in glioblastoma cells. Nat Genet 1996;8:171-6.
94. Holmgren L, O'Reilly MS, Folkman J. Dormancy of micrometastases: balanced proliferation and apoptosis in the presence of angiogenesis suppression. Nat Med 1995;1:149-53.
95. Frank RE, Saclarides TJ, Leurgans S, Speziale NJ, Drab EA, Rubin DB. Tumor angiogenesis as a predictor of recurrence and survival in patients with node-negative colon cancer. Ann Surg 1995;222:695-9.
96. Ebert EC, Brolin RE, Roberts AI. Characterization of activated lymphocytes in colon cancer. Clin Immunol Immunopathol 1989;50:72-81.
97. Hakansson L, Adell G, Boeryd B, Sjogren F, Sjodahl R. Infiltration of mononuclear inflammatory cells into primary colorectal carcinomas: an immunohistological analysis. Br J Cancer 1997;75:374-80.
98. Koch B, Giedl J, Hermanek P, Kalden JR. The analysis of mononuclear cell infiltrations in colorectal adenocarcinoma. J Cancer Res Clin Oncol 1985;109:42-51.
99. Smith ME. MHC antigen expression in colorectal tumours. Sem Cancer Biol 1991;2:17-21.
100. Giovannucci E, Egan KM, Hunter DJ, Stampfer MJ, Colditz GA, Willett WC, et al. Aspirin and the risk of colorectal cancer in women. N Engl J Med 1995;333:609-14.
101. Giardiello FM, Hamilton SR, Krush AJ, Piantadosi S, Hylind LM, Celano P, et al. Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 1993;328:1313-6.
102. Eberhart CE, Coffey RJ, Radhika A, Giardiello FM, Ferrenbach S, DuBois RN. Up-regulation of cyclooxygenase 2 gene expression in human colorectal adenomas and adenocarcinomas. Gastroenterology 1994;107:1183-8.
103. Pugh S, Thomas GA. Patients with adenomatous polyps and carcinomas have increased colonic mucosal prostaglandin E2. Gut 1994;35:675-8.
104. Rigas B, Goldman IS, Levine L. Altered cicosanoid levels in human colon cancer. J Lab Clin Med 1993;122:518-23.
105. 716 knockout mice by inhibition of cyclooxygenase 2 (COX-2). Cell 1996;87:803-9.
106. Kawamori T, Rao CV, Seibert K, Reddy BS. Chemopreventive activity of celecoxib, a specific cyclooxygenase-2 inhibitor, against colon carcinogenesis. Cancer Res 1998;58:409-12.
107. Tsujii M, DuBois RN. Alterations in cellular adhesion and apoptosis in epithelial cells over-expressing prostaglandin endoperoxidase synthase 2. Cell 1995;83:493-501.
108. Sheng H, Shao J, Morrow JD, Beauchamp RD, DuBois RN. Modulation of apoptosis and Bcl-2 expression by prostaglandin E2 in human colon cancer cells. Cancer Res 1998;58:362-6.
109. Tsujii M, Kawano S, Tsuji S, Sawaoka H, Hori M, DuBois RN. Cyclooxygenase regulates angiogenesis induced by colon cancer cells. Cell 1998;93:705-16.
110. Seed MP, Brown JR, Freemantle CN, Papworth JL, Colville-Nash PR, Willis D, et al. The inhibition of colon-26 adenocarcinoma development and angiogenesis by topical diclofenac in 2.5% hyaluronan. Cancer Res 1997;57:1625-9.