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The Causes of Colorectal Cancer

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Colorectal Cancer
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Abstract

Colorectal cancer is one of the leading causes of cancer-related morbidity and mortality, responsible for an estimated half a million deaths per year, mostly in Western, well-developed countries [1]. The epidemiology oflarge-bowel malignancies has generated a lot of interest recently, mainly because the disease provides an excellent model for studying the interactions between specific genes and several environmental factors in its etiology [2].

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References

  1. World Health Organization (WHO). The world health report. Geneva (Switzerland): WHO; 1997.

    Google Scholar 

  2. Ponz de Leon M. Genetic basis of tumour development. Ital J Gastroenterol 1996; 28:232–45.

    PubMed  CAS  Google Scholar 

  3. Lynch HT, Smyrk T, Lynch J. An update of HNPCC (Lynch syndrome). Cancer Genet Cytogenet 1997; 93:84–99.

    PubMed  CAS  Google Scholar 

  4. Lindblom A, Nordenskjold M. Hereditary cancer. Acta Oncologica 1999; 38:439–47.

    PubMed  CAS  Google Scholar 

  5. Wilmink ABM. Overview of the epidemiology of colorectal cancer. Dis Colon Rectum 1997; 40:483–93.

    PubMed  CAS  Google Scholar 

  6. Thiis-Evensen E, Hoff GS, Langmark F et al. Population-based surveillance by colonoscopy: effect on the incidence of colorectal cancer. Scand J Gastroenterol 1999; 34:414–20.

    PubMed  CAS  Google Scholar 

  7. Lairmore TC, Norton JA. Advances in molecular genetics. Am J Surg 1997; 173:37–41.

    PubMed  CAS  Google Scholar 

  8. Chiang JM, Wu Chou YH et al. K-ras codon 12 mutation determines the polypoid growth of colorectal cancer. Cancer Res 1998; 58:3289–93.

    PubMed  CAS  Google Scholar 

  9. Weisburger JH. Causes, relevant mechanisms, and prevention of large bowel cancer. Semin Oncol 1991; 18:316–36.

    PubMed  CAS  Google Scholar 

  10. Cancer incidence in the Greater Bombay, by religion and sex, 1973–1978. The Indian Cancer Society, Perel, Bombay, 1985.

    Google Scholar 

  11. Sant M, Capocaccia R, Verdecchia A et al. Comparisons of colon-cancer survival among European countries: the Eurocare study. Int J Cancer 1995; 63:43–48.

    PubMed  CAS  Google Scholar 

  12. McMichael AJ, McCall MG, Hartshorne JM et al. Patterns of gastrointestinal cancer in European migrants to Australia: the role of dietary change. Int J Cancer 1980; 25:431–7.

    PubMed  CAS  Google Scholar 

  13. Chu RC, Tarone RE, Chow WH et al. Temporal patterns in colorectal cancer incidence, survival, and mortality from 1950 through 1990. J Natl Cancer Inst 1994; 86:997–1006.

    PubMed  CAS  Google Scholar 

  14. Johansen C, Mellemgaard A, Skow T et al. Colorectal cancer in Denmark 1943–1988. Int J Colorect Dis 1993; 8:42–7.

    CAS  Google Scholar 

  15. Kemppainen M, Raiha I, Sourander L A marked increase in the incidence of colorectal cancer over two decades in Southwest Finland. J Clin Epidemiol 1997; 50:147–51.

    PubMed  CAS  Google Scholar 

  16. Ponz de Leon M, Benatti P, Percesepe A et al. Epidemiology of cancer of the large bowel — The 12-year experience of a specialized Registry in Northern Italy. Ital J Gastroenterol Hepatol 1999;31:10–8.

    PubMed  CAS  Google Scholar 

  17. Faivre J, Bedenne L, Boutron MC et al. Epidemiological evidence for distinguishing subsites of colorectal cancer. J Epidemiol Community Health 1989; 43:356–61.

    PubMed  CAS  Google Scholar 

  18. Beart RW, Melton LJ III, Maruta M et al. Trends in right and left-sided colon cancer. Dis Colon Rectum 1983; 26:393–8.

    PubMed  CAS  Google Scholar 

  19. Potter JD Colorectal cancer: molecules and populations. J Natl Cancer Inst 1999; 91:91632.

    Google Scholar 

  20. Weisburger JH, Wynder EL Etiology of colorectal cancer with emphasis on mechanisms of action and prevention. In: Devita VT, Hellman S, Rosenberg SA Important advances in oncology. Lippincott, Philadelphia, 1987; 197–200.

    Google Scholar 

  21. Terry P, Giovannucci E, Michaels KB et al. Fruit, vegetables, dietary fiber, and risk of colorectal cancer. J Natl Cancer Inst 2001; 93:525–33.

    PubMed  CAS  Google Scholar 

  22. World Cancer Research Fund (WCRF) (Potter JD, Chair). Diet, nutrition and the prevention of cancer: a global perspective. Washington DC: WCRF/American Institute of Cancer Research; 1997.

    Google Scholar 

  23. Potter JD, Slattery ML, Bostick RM et al. Colon cancer: a review of the epidemiology. Epidemiol Rev 1993; 15:499–545.

    PubMed  CAS  Google Scholar 

  24. Baron JA, Beach M, Mandel JS et al. Calcium supplements for the prevention of colorectal adenomas. Calcium Polyp Prevention Study Group. N Engl J Med 1999; 340:101–7.

    PubMed  CAS  Google Scholar 

  25. Lipkin M, Newmark H Effect of added calcium on colonic epithelial-cell proliferation in subjects at high risk for familial colonic cancer. N Engl J Med 1985; 313:1381–4.

    PubMed  CAS  Google Scholar 

  26. Paganelli GM, Biasco G, Brandi D et al. Effect of vitamin A, C, and E supplementation on rectal cell proliferation in patients with colorectal adenomas. J Natl Cancer Inst 1992; 84:47–51.

    PubMed  CAS  Google Scholar 

  27. Roncucci L, Di Donato P, Carati L et al. Antioxidant vitamins or lactulose for the prevention of the recurrence of colorectal adenomas. Dis Colon Rectum 1993; 36:227–34.

    PubMed  CAS  Google Scholar 

  28. Greenberg ER, Baron JA, Tosteson TD et al. A clinical trial of antioxidant vitamins to prevent colorectal adenoma. N Engl J Med 1994; 331:141–7.

    PubMed  CAS  Google Scholar 

  29. Giovannucci E, Rimm EB, Ascherio A et al. Alcohol, low-methionine-low-folate diets and risk of colon cancer in men. J Natl Cancer Inst 1993; 28:276–81.

    Google Scholar 

  30. Slattery ML, Schaffer D, Edwards SL et al. Are dietary factors involved in DNA methylation associated with colon cancer? Nutr Cancer 1997; 28:52–62.

    PubMed  CAS  Google Scholar 

  31. Thune I, Lund E Physical activity and risk of colorectal cancer in men and women. Br J Cancer 1996; 73:1134–40.

    PubMed  CAS  Google Scholar 

  32. Tavani A, Braga C, La Vecchia C et al. Physical activity and risk of cancers of the colon and rectum: an Italian case-control study. Br J Cancer 1999; 79:1912–6.

    PubMed  CAS  Google Scholar 

  33. Singh PN, Fraser GE Dietary risk factors for colon cancer in a low-risk population. Am J Epidemiol 1998; 148:761–74.

    PubMed  CAS  Google Scholar 

  34. McKeown-Eyssen G Epidemiology of colorectal cancer revisited: serum triglycerides and/or plasma glucose associated with risk? Cancer Epidemiol Biomarkers Prev 1994; 3:687–95.

    PubMed  CAS  Google Scholar 

  35. Schoen RE, Tangen CM, Kuller LH et al. Increased blood glucose and insulin, body size, and incident colorectal cancer. J Natl Cancer Inst 1999; 91:1147–54.

    PubMed  CAS  Google Scholar 

  36. Sirinek KR, Levine BA, Moyer MP Pentagastrin stimulates in vitro growth of normal and malignant human colon epithelial cells. Am J Surg 1985; 149:35–9.

    PubMed  CAS  Google Scholar 

  37. Seitz JF, Giovannini M, Gouvernet J et al. Elevated serum gastrin levels in patients with colorectal neoplasia. J Clin Gastroenterol 1991; 13:541–5.

    PubMed  CAS  Google Scholar 

  38. Kikendall JW, Glass AR, Sobin LH et al. Serum gastrin is not higher in subjects with colonic neoplasia. Am J Gastroenterol 1992; 87:1394–7.

    PubMed  CAS  Google Scholar 

  39. Orbuch M, Venzon DJ, Lubenky IA et al. Prolonged hypergastrinemia does not increase the frequency of colonic neoplasia in patients with Zollinger-Ellison syndrome. Dig Dis Sci 1996;41:604–13.

    PubMed  CAS  Google Scholar 

  40. Thorburn CM, Friedman GD, Dickinson CJ et al. Gastrin and colorectal cancer: a prospective study. Gastroenterology 1998; 115:275–80.

    PubMed  CAS  Google Scholar 

  41. Fraumeni JF Jr, Lloyd W, Smith EM et al. Cancer mortality among nuns: role of marital status in etiology of neoplastic disease in women. J Natl Cancer Inst 1969; 42:455–68.

    PubMed  Google Scholar 

  42. McMichael AJ, Potter JD Reproduction, endogenous and exogenous sex hormones, and colon cancer: a review and hypothesis. J Natl Cancer Inst 1980; 65:1201–7.

    PubMed  CAS  Google Scholar 

  43. Giovannucci E An updated review of the epidemiological evidence that cigarette smoking increases risk of colorectal cancer. Cancer Epidemiol Biomarkers Prev 2001; 10:725–31.

    PubMed  CAS  Google Scholar 

  44. Giovannucci E, Colditz GA, Stampfer MJ et al. A prospective study of cigarette smoking and risk of colorectal adenoma and colorectal cancer in U.S. women. J Natl Cancer Inst 1994; 86:192–9.

    PubMed  CAS  Google Scholar 

  45. Giovannucci E, Rimm EB, Stampfer MJ et al. A prospective study of cigarette smoking and risk of colorectal adenoma and colorectal cancer in U.S. men. J Natl Cancer Inst 1994; 86:183–91.

    PubMed  CAS  Google Scholar 

  46. Slattery ML, Potter JD, Friedman GD et al. Tobacco use and colon cancer. Int J Cancer 1997; 70:259–64.

    PubMed  CAS  Google Scholar 

  47. Stocks P Cancer incidence in North Wales and Liverpool region in relation to habits and environment. Br Emp Cancer Champaign 35th Annual Report 1957; 1:127.

    Google Scholar 

  48. Maratka Z, Nedbal J, Kocianova J et al. Incidence of colorectal cancer in proctocolitis: a retrospective study of 959 cases over 40 years. Gut 1985; 26:43–9.

    PubMed  CAS  Google Scholar 

  49. Mellemkjaer L, Olsen J, Frisch M et al. Cancer in patients with ulcerative colitis. Int J Cancer 1995;60:330–3.

    PubMed  CAS  Google Scholar 

  50. Ekbom A, Helmick C, Zack M et al. Ulcerative colitis and colorectal cancer: a population-based study. N Engl J Med 1990; 3223:1228–33.

    Google Scholar 

  51. Riddell RH, Goldman H, Ransohoff DF et al. Dysplasia in inflammatory bowel disease: standardized classification with provisional clinical applications. Hum Pathol 1983; 11:931–68.

    Google Scholar 

  52. Hsieh CJ, Klump B, Holzmann K et al. Hypermethylation of the pl6INK4a promoter in colectomy specimens of patients with long-standing and extensive ulcerative colitis. Cancer Res 1998; 58:3942–5.

    PubMed  CAS  Google Scholar 

  53. Walsh SV, Loda M, Torres CM et al. p53 and β catenin expression in chronic ulcerative colitis-associated polypoid dysplasia and sporadic adenomas. An immunohistochemical study. Am J Surg Pathol 1999; 23:963–9.

    PubMed  CAS  Google Scholar 

  54. Rabinovitch PS, Dziadon S, Brentnall TA et al. Pancolonic chromosomal instability precedes dysplasia and cancer in ulcerative colitis. Cancer Res 1999; 59:5148–53.

    PubMed  CAS  Google Scholar 

  55. Glotzer D The risk of cancer in Crohn’s disease. Gastroenterology 1985; 89:438–41.

    PubMed  CAS  Google Scholar 

  56. Ekbom A, Helmick C, Zack M et al. Increased risk of large bowel cancer in Crohn’s disease with colonic involvement. Lancet 1990; 336:357–9.

    PubMed  CAS  Google Scholar 

  57. Ponz de Leon M, Di Gregorio C, Roncucci L et al. Epidemiology of tumours of the colon and rectum: incidence, mortality, survival and familiality in the Health Care District of Modena, 1984–1992. University of Modena, 1995; 1–57.

    Google Scholar 

  58. Craven PA, DeRubertis FR The evolution of cancer of the colon and rectum. Cancer 1992; 36:2251–70.

    Google Scholar 

  59. Pollard M, Luckert PH Indomethacin treatment of rats with dimethylhydrazineinduced intestinal tumors. Cancer Treat Rep 1980; 64:1323–7.

    PubMed  CAS  Google Scholar 

  60. Rosenberg L, Louik C, Shapiro S Nonsteroidal antinflammatory use and reduced risk of large bowel cancer. Cancer 1998; 82:232.

    Google Scholar 

  61. Thun MJ, Namboodiri MM, Heath CW Jr. Aspirin use and reduced fatal colon cancer. N Engl J Med 1991; 325:1593–6.

    PubMed  CAS  Google Scholar 

  62. Nugent KP, Spigelman AD, Phillips RKS Tissue prostaglandin levels in familial adenomatous polyposis patients treated with Sulindac. Dis Colon Rectum 1996; 39:659–62.

    PubMed  CAS  Google Scholar 

  63. Ladenheim J, Garcia G, Titzer D et al. Effect of Sulindac on sporadic colonic polyps. Gastroenterology 1995; 108:1083–7.

    PubMed  CAS  Google Scholar 

  64. Niv Y, Fraser GM Adenocarcinoma in the rectal segment in familial polyposis coli is not prevented by Sulindac therapy. Gastroenterology 1994; 107:854–7.

    PubMed  CAS  Google Scholar 

  65. Ponz de Leon M, Antonioli A, Ascari A et al. Incidence and familial occurrence of colorectal cancer and polyps in a Health-Care district of Northern Italy. Cancer 1987; 62:2848–59.

    Google Scholar 

  66. Wilcox GM, Anderson PB, Colacchio TA. Early invasive carcinoma in colonic polyps. Cancer 1986; 57:160–71.

    PubMed  CAS  Google Scholar 

  67. Subramony C, Scott-Conner CEH, Skelto D et al. Familial juvenile polyposis. Study of a kindred: evolution of polyps and relationship to gastrointestinal carcinoma. Am J Clin Pathol 1994; 102:91–7.

    PubMed  CAS  Google Scholar 

  68. Owen DA Flat adenoma, flat carcinoma and de novo carcinoma of the colon. Cancer 1996; 77:3–6.

    PubMed  CAS  Google Scholar 

  69. Wilcox GM, Beck JR Early invasive cancer in adenomatous colonic polyps (“Malignant polyps”). Evaluation of the therapeutic options by decision analysis. Gastroenterology 1987; 92:1159–68.

    PubMed  CAS  Google Scholar 

  70. Radice P, Cama A, Mariani-Costantini R Molecular genetics of polyposis and hereditary colorectal cancer. FORUM Trends in experimental and clinical medicine 1996; 6:275–91.

    Google Scholar 

  71. O’Brien MJ, Winawer SJ, Zauber AG et al. The National Polyp Study. Patient and polyp characteristics associated with high-grade dysplasia in colorectal adenomas. Gastroenterology 1990; 98:371–9.

    PubMed  Google Scholar 

  72. Bond JH Interference with the Adenoma-Carcinoma sequence. Eur J Cancer 1995; 31A:1115–7.

    PubMed  CAS  Google Scholar 

  73. Stryker SJ, Wolff BG, Culp CE et al. Natural history of untreated colonic polyps. Gastroenterology 1987; 93:1009–13.

    PubMed  CAS  Google Scholar 

  74. Ohnishi T, Tomita N, Monden T et al. A detailed analysis of the role of K-ras gene mutation in the progression of colorectal adenoma. Br J Cancer 1997; 75:341–7.

    PubMed  CAS  Google Scholar 

  75. Zauber NP, Sabbath-Solitare M, Marotta SP et al. K-ras mutation and loss of heterozygosity of the adenomatous polyposis coli gene in patients with colorectal adenomas with in situ carcinoma. Cancer 1999; 86:31–6.

    PubMed  CAS  Google Scholar 

  76. Vogelstein B, Fearon ER, Hamilton SR et al. Genetic alterations during colorectal-tumor development. N Engl J Med 1988; 319:525–32.

    PubMed  CAS  Google Scholar 

  77. Lipkin M, Blattner WE, Fraumeni JF et al. Tritiated thymidine labeling distribution as a marker for hereditary predisposition to colon cancer. Cancer Res 1983; 43:1899–904.

    PubMed  CAS  Google Scholar 

  78. Ponz de Leon M, Roncucci L, Di Donato P et al. Pattern of epithelial cell proliferation in colorectal mucosa of normal subjects and of patients with adenomatous polyps or cancer of the large bowel. Cancer Res 1988; 48:4121–6.

    PubMed  CAS  Google Scholar 

  79. Goelz S, Vogelstein B, Hamilton S et al. Hypomethylation of DNA from benign and malignant human colon neoplasms. Science 1985; 228:187–90.

    PubMed  CAS  Google Scholar 

  80. Vogelstein B, Fearon E, Kern et al. Allelotype of colorectal carcinomas. Science 1989; 244:207–11.

    PubMed  CAS  Google Scholar 

  81. Bos J, Fearon ER, Hamilton SR et al. Prevalence of ras gene mutations in human colorectal cancers. Nature 1987; 327:293–7.

    PubMed  CAS  Google Scholar 

  82. Cho KR, Vogelstein B. Genetic alterations in the adenoma-carcinoma sequence. Cancer 1992; 70:1727–31.

    PubMed  CAS  Google Scholar 

  83. Kinzler K, Nilbert M, Vogelstein B et al. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science 1991; 251:1366–70.

    PubMed  CAS  Google Scholar 

  84. Boland CR, Sato J, Appelman HD et al. Microallelotyping defines the sequence and tempo of allelic losses at tumour suppressor gene loci during colorectal cancer progression. Nat Med 1995; 1:902–9.

    PubMed  CAS  Google Scholar 

  85. Lynch HT, Fusaro RM, Lynch J Hereditary cancer in adults. Cancer Detection and Prevention 1995; 19:219–33.

    PubMed  CAS  Google Scholar 

  86. Lynch HT, Smyrk T Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome). Cancer 1996; 78:1149–67.

    PubMed  CAS  Google Scholar 

  87. Rodriguez-Bigas MA, Boland CR, Hamilton SR et al. A national Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 1997; 89:1758–62.

    PubMed  CAS  Google Scholar 

  88. Lynch HT, Watson P, Shaw TG et al. Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer. Part II: hereditary nonpolyposis colorectal carcinoma as a model. Cancer 1999; 86:1637–43.

    Google Scholar 

  89. Kinzler KW, Vogelstein B Lessons from Hereditary Colorectal Cancer. Cell 1996; 87:159–70.

    PubMed  CAS  Google Scholar 

  90. Wallace MH, Phillips KS Upper gastrointestinal disease in patients with familial adenomatous polyposis. Br J Surg 1998; 85:742–50.

    PubMed  CAS  Google Scholar 

  91. Ponz de Leon M, Sassatelli R, Benatti P et al. Identification of Hereditary nonpolyposis colorectal cancer in the general population. The 6-year experience of a populationbased registry. Cancer 1993; 71:3493–3501.

    PubMed  CAS  Google Scholar 

  92. Carstensen B, Soll-Johanning H, Villadsen E et al. Familial aggregation of colorectal cancer in the general population. Int J Cancer 1996; 68:428–35.

    PubMed  CAS  Google Scholar 

  93. Goldgar D, Easton D, Cannon-Albright L et al. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 1994; 86:1600–8.

    PubMed  CAS  Google Scholar 

  94. Duncan JL, Kyle J Family incidence of carcinoma of the colon and rectum in North-East Scotland. Gut 1982; 23:169–71.

    PubMed  CAS  Google Scholar 

  95. Frayling IM, Beck NE, Ilyas M et al. The APC variants I1307 K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci. 1998; 95:10722–7.

    PubMed  CAS  Google Scholar 

  96. Woodage T, King SM, Wacholder S et al. The APC I1307 K allele and cancer risk in a community-based study of Ashkenazi Jews. Nature Genet 1998; 20:62–5.

    PubMed  CAS  Google Scholar 

  97. White RL Excess risk of colon cancer associated with a polymorphism of the APC gene? Cancer Res 1998; 58:4038–9.

    PubMed  CAS  Google Scholar 

  98. Stern HS, Viertelhausen S, Hunter AGW et al. APC I1307 K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. Gastroenterology 2001; 120: 392–400.

    PubMed  CAS  Google Scholar 

  99. Fante R, Roncucci L, Di Gregorio C et al. Frequency and clinical features of multiple tumors of the large bowel in general population and in patients with hereditary colorectal carcinoma. Cancer 1996; 77:2013–21.

    PubMed  CAS  Google Scholar 

  100. Bellacosa A, Genuardi M, Anti M et al. Hereditary Nonpolyposis Colorectal Cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet 1996; 62:353–64.

    PubMed  CAS  Google Scholar 

  101. Vasen HFA, Mecklin JP, Meera Khan P et al. The International Collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991; 34:424–5.

    PubMed  CAS  Google Scholar 

  102. Vasen HFA, Watson P, Mecklin JP et al and the ICG-HNPCC. New clinical criteria for Hereditary Nonpolyposis Colorectal Cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999; 116:1453–6.

    PubMed  CAS  Google Scholar 

  103. Lynch HT, Drouhard TJ, Schuelke GS et al. Hereditary nonpolyposis colorectal cancer in a Navajo Indian family. Cancer Genet Cytogenet 1985; 15:209–13.

    PubMed  CAS  Google Scholar 

  104. San Jose BA, Navarro NS, Doble F Hereditary nonpolyposis colorectal cancer: an awareness. JMMS 1989; 25:37–8.

    Google Scholar 

  105. Burt RW, Bishop T, Cannon LA et al. Dominant inheritance of adenomatous colonic polyps and colorectal cancer. N Engl J Med 1985; 312:1540–4.

    PubMed  CAS  Google Scholar 

  106. Mecklin JR Frequency of hereditary colorectal carcinoma. Gastroenterology 1987; 93:1021–5.

    PubMed  CAS  Google Scholar 

  107. Westlake PJ, Bryant HE, Huchcroft SA et al. Frequency of hereditary nonpolyposis colorectal cancer in Southern Alberta. Dig Dis Sci 1991; 36:1441–7.

    PubMed  CAS  Google Scholar 

  108. Benatti P, Sassatelli R, Roncucci L et al. Tumour spectrum in Hereditary non-polyposis colorectal cancer (HNPCC) and in families with “suspected HNPCC”. A populationbased study in Northern Italy. Int J Cancer 1993; 54:371–7.

    PubMed  CAS  Google Scholar 

  109. Wijnen JT, Vasen HFA, Meera Khan P et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998; 339:511–8.

    PubMed  CAS  Google Scholar 

  110. Nicolaides NC, Papadopoulos N, Liu B et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371:75–80.

    PubMed  CAS  Google Scholar 

  111. Peltomaki P, Aaltonen LA, Sistonen P et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993; 260:812–2.

    PubMed  Google Scholar 

  112. Liu B, Parsons R, Papadopoulos N et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med 1996; 2:169–74.

    PubMed  CAS  Google Scholar 

  113. Papadopoulos N, Nicolaides NC, Wei YF et al Mutation of a mutL homolog in hereditary colon cancer. Science 1994; 263:1625–9.

    PubMed  CAS  Google Scholar 

  114. Peltomaki P, Vasen HFA, the International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Mutations predisposing to Hereditary Nonpolyposis Colorectal Cancer: database and results of a collaborative study. Gastroenterology 1997; 113:1146–1158.

    PubMed  CAS  Google Scholar 

  115. Loeb LA Microsatellite instability: marker of a mutator phenotype in cancer. Cancer Res 1994; 54:5059–63.

    PubMed  CAS  Google Scholar 

  116. Boyer JC, Umar A, Risinger JI et al. Microsatellite instability, mismatch repair deficiency and genetic defects in human cancer cell lines. Cancer Res 1995; 55:6063–70.

    PubMed  CAS  Google Scholar 

  117. Aaltonen LA, Peltomaki P, Mecklin JP et al. Replication errors in benign and malignant tumors from Hereditary Nonpolyposis Colorectal Cancer patients. Cancer Res 1994; 54:1645–8.

    PubMed  CAS  Google Scholar 

  118. Jass JR, Cottier DS, Jeevaratnam P et al. Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet 1995; 346:1200–1.

    PubMed  CAS  Google Scholar 

  119. Bellacosa A, Cicchilitti L, Scherpis F et al. MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. Proc Natl Acad Sci 1999; 96:3969–74.

    PubMed  CAS  Google Scholar 

  120. Viel A, Genuardi M, Capozzi E et al. Characterizaton of MSH2 and MLH1 mutations in italian families with hereditary nonpolyposis colorectal cancer. Genes Chrom Cancer 1997; 18:8–18.

    PubMed  CAS  Google Scholar 

  121. Genuardi M, Anti M, Capozzi E et al. MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. Int J Cancer 1998; 75:835–9.

    PubMed  CAS  Google Scholar 

  122. Weber TK, Conton W, Petrelli NJ et al. Genomic DNA-based hMSH2 and hMLHl mutation screening in 32 eastern United States hereditary nonpolyposis colorectal cancer pedigrees. Cancer Res 1997; 57:3798–803.

    PubMed  CAS  Google Scholar 

  123. Tannergard P, Lipford J, Kolodner R et al. Mutation screening in the hMLHl gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res 1995; 55:6092–6.

    PubMed  CAS  Google Scholar 

  124. Petersen GM, Boyd PA Gene tests and counseling for colorectal cancer risk: lessons from familial polyposis. J Natl Cancer Inst 1995; 17:67–71.

    Google Scholar 

  125. Groden J, Thliveris A, Samowitz W et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991; 66:589–600.

    PubMed  CAS  Google Scholar 

  126. Haggitt RC, Reid BJ Hereditary gastrointestinal polyposis syndromes. Am J Surg Pathol 1986; 10:871–87.

    PubMed  CAS  Google Scholar 

  127. Nance FC Management strategies for familial adenomatous polyposis. Ann Surg 1993; 217:99–100.

    PubMed  CAS  Google Scholar 

  128. Ziv Y, Church JM, Oakley JR et al. Surgery for the teenager with familial adenomatous polyposis: ileo-rectal anastomosis or restorative proctolectomy? Int J Colorect Dis 1995; 10:6–9.

    CAS  Google Scholar 

  129. Utsunomiya J, Iwama T Adenomatosis coli in Japan. In: Winawer S, Schottenfeld D, Sherlock R Colorectal Cancer: Prevention, Epidemiology and Screening. New York, Raven Press, 1980; 83–95.

    Google Scholar 

  130. De Pietri S, Sassatelli R, Roncucci L et al. Clinical and biologic features of adenomatosis coli in Northern Italy. Scand J Gastroenterol 1995; 30:771–9.

    PubMed  Google Scholar 

  131. Berk T, Cohen Z, McLeod RS et al. Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis. Dis Colon Rectum 1988; 31:253–7.

    PubMed  CAS  Google Scholar 

  132. Lyons LA, Lewis RA, Strong LC et al. A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium. Am J Hum Genet 1988; 42:290–6.

    PubMed  CAS  Google Scholar 

  133. Heiskanen I, Jarvinen HJ Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. Int J Colorect Dis 1996; 11:157–62.

    CAS  Google Scholar 

  134. Lewis J J, Boland PJ, Leung DHY et al. The enigma of desmoid tumors. Ann Surg 1999; 229:866–73.

    PubMed  CAS  Google Scholar 

  135. Biilow C, Biilow S and the Leeds Caste Polyposis Group. Is screening for thyroid carcinoma indicated in familial adenomatous polyposis? Int J Colorect Dis 1997; 12:240–2.

    Google Scholar 

  136. Kikuchi T, Rempel SA, Rutz HP et al. Turcot’s syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene. Cancer Res 1993; 53:957–61.

    PubMed  CAS  Google Scholar 

  137. Matsui T, Hayashi N, Yao K et al. A father and son with Turcofs syndrome: evidence for autosomal dominant inheritance. Report of two cases. Dis Colon Rectum 1998; 41:797–801.

    PubMed  CAS  Google Scholar 

  138. Dobbie Z, Spycher M, Hurliman R et al. Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. Eur J Cancer 1994; 30A: 1709–13.

    PubMed  CAS  Google Scholar 

  139. Pedemonte S, Sciallero S, Gismondi V et al. Novel germline APC variants in patients with multiple adenomas. Gene Chrom Cancer 1998; 22:257–67.

    CAS  Google Scholar 

  140. Bodmer WF, Bailey CJ, Bodmer J et al. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 1987; 328:614–9.

    PubMed  CAS  Google Scholar 

  141. Kinzler KW, Nilbert MC, Su LK et al. Identification of FAP locus gene from chromosome 5q12. Science 1991; 253:661–5.

    PubMed  CAS  Google Scholar 

  142. Moon RT, Miller JR. The APC tumor suppressor protein in development and cancer. Trends Genet 1997; 13:256–8.

    PubMed  CAS  Google Scholar 

  143. Laken SJ, Papadopoulos N, Petersen GM.... et al. Analysis of masked mutations in familial adenomatous polyposis. Proc Natl Acad Sci 1999; 96:2322–6.

    PubMed  CAS  Google Scholar 

  144. Joslyn G, Carlson M, Thliveris A et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991; 66:601–13.

    PubMed  CAS  Google Scholar 

  145. Olschwang S, Laurent-Pulg P, Groden J et al. Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet 1993; 52:273–9.

    PubMed  CAS  Google Scholar 

  146. Leggett BA, Young JP, Biden K et al. Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520. Gut 1997; 41:518–21.

    PubMed  CAS  Google Scholar 

  147. Ponz de Leon M, Benatti P, Percesepe A et al. Clinical features and genotype-phenotype correlations in 41 italian families with Adenomatosis Coll. Ital J Gastroenterol Hepatol 1999;31:850–60.

    PubMed  CAS  Google Scholar 

  148. Nugent KP, Phillips RKS, Hodgson SV et al. Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis. Gut 1994; 35:1622–3.

    PubMed  CAS  Google Scholar 

  149. Giardiello FM, Petersen GM, Piantadosi S et al. APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut 1997; 40:521–5.

    PubMed  CAS  Google Scholar 

  150. Gebert JF, Dupon C, Kadmon M et al. Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coll. Ann Surg 1999; 229:350–61.

    PubMed  CAS  Google Scholar 

  151. Presciuttini S, Gismondi V, Scarcello E et al. Different expressivity of two adjacent mutations of the APC gene. Tumori 1999; 85:28–31.

    PubMed  CAS  Google Scholar 

  152. MacPhee M, Chepenik KP, Liddell RA et al. The secretory phospholipase A2 gene is a candidate for the Moml locus, a major modifier of APCM i n-induced intestinal neoplasia. Cell 1995;81:957–66.

    PubMed  CAS  Google Scholar 

  153. Moser AR, Luongo C, Gould KA et al. ApcMin: a mouse model for intestinal and mammary tumorigenesis. Eur J Cancer 1995; 31A:1061–4.

    PubMed  CAS  Google Scholar 

  154. McMichael AJ, Potter JD Host factors in carcinogenesis: certain bile-acid metabolic profiles that selectively increase the risk of proximal colon cancer. J Natl Cancer Inst. 1985; 75:185–91.

    PubMed  CAS  Google Scholar 

  155. Sugimura T, Sato S Mutagens-carcinogenes in foods. Cancer Res 1983; 43:2415–21.

    CAS  Google Scholar 

  156. Ruschoff J, Wallinger S, Dietmaier W et al. Aspirin suppresses the mutator phenotype associated with hereditary nonpolyposis colorectal cancer by genetic selection. Proc Natl Acad Sci 1998; 95:11301–6.

    PubMed  CAS  Google Scholar 

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Ponz de Leon, M. (2002). The Causes of Colorectal Cancer. In: Colorectal Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56008-8_1

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