Genetic mechanisms in the hereditary predisposition to colorectal cancer;Mecanismos genéticos en la predisposición hereditaria al cáncer colorrectal

Anales del Sistema Sanitario de Navarra

Volumn 29, Issue 1, 2006, Pages 59-76

  Alonso, A ^a   Moreno, S ^a   Valiente, A ^a   Artigas, M ^a   Perez Juana A ^a   Ramos Arroyo, M A ^a  

^a Universidad Pública de Navarra   (Spain)

Author keywords

APC; Cancer genes; Colorectal cancer; Hereditary; Hereditary non polyposis colorectal cancer; Neoplastic syndromes

Indexed keywords

ADENOMATOUS POLYP; ALLELE; CARCINOGENESIS; CLINICAL PRACTICE; COLORECTAL CANCER; GENETIC PREDISPOSITION; HEREDITY; HUMAN; REVIEW;

ADENOMATOUS POLYPOSIS COLI; ALLELES; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; MUTATION; PHENOTYPE;

EID: 33646780274     PISSN: 11376627     EISSN: 11376627     Source Type: Journal    
DOI: None     Document Type: Review

References (91)

1. FEARON ER, VOGELSTEIN B. A genetic model for colorectal tumorigenesis. Cell 1990; 61: 759-767.
2. World Health Organization. Cancer incidence in five continents. Vol. VIII. IARC, Scientific Publications No 155 (2002) Editado por DM Parkin, SL Whelan J Ferlay, L Teppo y DB Thomas.
3. VASEN HF, VAN BALLEGOOIJEN M, BUSKENS E, KLEIBEUKER JK, TAAL BG, GRIFFIOEN G et al. A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 1998; 82: 1632-1637.
4. PARK M. ONCOGENES. En: The genetic basis of human cancer (eds. Vogelstein B, Kinzler KW), pp. 205-228. McGraw-Hill, New York, USA 1998.
5. NISHIDA T, HIROTA S, TANIGUCHI M, HASHIMOTO K, ISOZAKI K, NAKAMURA H et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet 1998; 19: 323-324.
6. KINZLER KW, VOGELSTEIN B. Gatekeepers and caretakers. Nature 1997; 386: 761-763.
7. KINZLER KW, VOGELSTEIN B. Landscaping the cancer terrain. Science 1998; 280: 1036-1037.
8. TOYOTA M, OHE-TOYOTA M, AHUJA N, ISSA JP. Distinct genetic profiles in colorectal tumors with or without the CpG island methylator phenotype. Proc Natl Acad Sci USA 2000; 97: 710-715.
9. SPARKS AB, MORIN PJ, VOGELSTEIN B, KINZLER KW. Mutational analysis of the APC/β-catenin/Tcf pathway in colorectal cancer. Cancer Res 1998; 58:1130-1134.
10. ICHII S, TAKEDA S, HORII A, NAKATSURU S, MIYOSHI Y, EMI M et al. Detailed analysis of genetic alterations in colorectal tumors from patients with and without familial adenomatous polyposis (FAP). Oncogene 1993; 8: 2399-2405.
11. KINZLER KW, VOGELSTEIN B. Lessons from hereditary colorectal cancer. Cell 1996; 87: 159-170.
12. THIAGALINGAM S, LENGAUER C, LEACH FS, SCHUTTE M, HAHN SA, OVERHAUSER J et al. Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nat Genet 1996; 13: 343-346.
13. FODDE R, KUIPERS J, ROSENBERG C, SMITS R, KIELMAN M, GASPAR C et al. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat Cell Biol 2001; 3: 433-438.
14. GREEN RA, KAPLAN KB. Chromosome instability in colorectal tumor cells is associated with defects in microtubule plus-end attachments caused by a dominant mutation in APC. J Cell Biol 2003; 163: 949-961.
15. RUDOLPH KL, MILLARD M, BOSENBERG MW, DEPINHO RA. Telomere dysfunction and evolution of intestinal carcinoma in mice and humans. Nat Genet 2001; 28: 155-159.
16. LENGAUER C, KINZLER KW, VOGELSTEIN B. DNA methylation and genetic instability in colorectal cancer cells. Proc Natl Acad Sci USA 1997; 94: 2545-2550.
17. AALTONEN LA, PELTOMÄKI P, LEACH FS, SISTONEN P, PYLKKÄNEN L, MECKLIN JP et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260: 812-816.
18. JIRICNY J. Replication errors: Cha(lle)nging the genome. EMBO J 1998; 22: 6427-6436.
19. LIU W, DONG X, MAI M, SEELAN RS, TANIGUCHI K, KRISHNADATH KK et al. Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signalling. Nat Genet 2000; 26: 146-147.
20. SHASHIDHARAN M, SMYRK T, KIN KM, TERNENT CA, THORSON AG, BLATCHFORD GJ et al. Histologic comparison of hereditary nonpolyposis colorectal cancers associated with MSH2 and MLH1 and colorectal cancer from the general population. Dis Colon Rectum 1999; 42: 722-726.
21. RIBIC CM, SARGENT DJ, MOORE MJ, THIBODEAU SN, FRENCH AJ, GOLDBERG RM et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 2003; 349: 247-257.
22. TOYOTA M, AHUJA N, OHE-TOYOTA M, HERMAN JG, BAYLIN SB, ISSA JP. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 1999; 96: 8681-8686.
23. SKLIFASOWSKI NW. Polyadenoma tractus intestinalis. Vrac 1881; 4: 55-57. Quoted by Bülow S 1987.
24. SPIGELMAN AD, TALBOT IC, WILLIAMS CB, DOMIZIO P, PHILLIPS RKS. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2: 783-785.
25. ARVANDITIS ML, JAGELMAN DG, FAZIO VW, LAVERY IC, MC GANNON E. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33: 639-642.
26. GARDNER EJ. Gardner's syndrome re-evaluated after twenty years. Proc Utah Academy 1969; 46: 1-11. Quoted by Bussey HJR 1975.
27. BERTARIO L, RUSSO A, SALA P, EBOLI M, GIAROLA M, D'AMICO F et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 2001; 95: 102-107.
28. 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: 951-957.
29. CRIPPS WH. Two cases of disseminated polypus of the rectum. Trans Path Soc Lond 1882; 33: 165-168. Quoted by Bussey HJR 1975.
30. DUKES CE. Familial intestinal polyposis. Ann Eugen Lond 1952; 17: 1-29.
31. JOSLYN G, CARLSON M, THLIVERIS A, ALBERTSEN H, GELBERT L, SAMOWITZ W et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 1991; 66: 601-613.
32. 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.
33. KINZLER KW, NILBERT MC, SU L-K, VOGELSTEIN B, BRYAN TM, LEVY DB et al. Identification of FAP locus genes from chromosome 5q21. Science 1991; 253: 661-664.
34. 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: 665-669.
35. GOSS KH, GRODEN J. Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 2000; 18: 1967-1979.
36. FEARNHEAD NS, BRITTON MP, BODMER WF. The ABC of APC. Hum Mol Genet 2001; 10: 721-733.
37. REHBERG M, GRAF R. Dictyostelium EB1 is a genuine centrosomal component required for proper spindle formation. Mol Biol Cell 2002; 13: 2301-2310.
38. MATSUMINE A, OGAI A, SENDA T, OKUMURA N, SATOH K, BAEG GH et al. Binding of APC to the human homolog of the Drosophila discs large tumor suppressor protein. Science 1996; 17; 272: 1020-1023.
39. GUMBINER BM. Regulation of cadherin adhesive activity. J Cell Biol 2000; 148: 399-404.
40. MOSS SF, LIU TC, PETROTOS A, HSU TM, GOLD LI, HOLT PR. Inward growth of colonic adenomatous polyps. Gastroenterology 1996; 111: 1425-1432.
41. POWELL SM, PETERSEN GM, KRUSH AJ, BOOKER S, JEN J, GIARDIELLO FM et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329: 1982-1987.
42. MIYOSHI Y, ANDO H, NAGASE H, NISHISHO I, HORII A, MIKI Y ET AL. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci USA 1992; 8: 4452-4456.
43. KNUDSON AG, STRONG LC. Mutation and cancer: a model for Wilms' tumor of the kidney. J Nat Cancer Inst 1972; 48: 313-324.
44. LAMLUM H, ILYAS M, ROWAN A, CLARK S, JOHNSON V, BELL J et al. The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. Nat Med 1999; 5: 1071-1075.
45. ALBUQUERQUE C, BREUKEL C, VAN DER LUIJT R, FIDALGO P, LAGE P, SLORS FJ et al. The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade. Hum Mol Genet 2002; 11: 1549-1560.
46. YAN H, DOBBIE Z, GRUBER SB, MARKOWITZ S, ROMANS K, GIARDIELLO FM, KINZLER KW et al. Small changes in expression affect predisposition to tumorigenesis. Nat Genet 2002; 30: 25-26.
47. ECCLES DM, LUNT PW, WALLIS Y, GRIFFITHS M, SANDHU B, MCKAY S et al. An unusually severe phenotype for familial adenomatous polyposis. Arch Dis Child 1997; 77: 431-435.
48. CASPARI R, FIEDL W, MANDL M, MÖSLEIN G, KADMON M, KNAPP M et al. Familial adenomatous polyposis: Mutation at codon 1309 and early onset of colon cancer. Lancet 1994; 343: 629-632.
49. ALONSO A, MORENO S, PÉREZ-JUANA A, RAMOS MA, CABELLO P, SAN ROMÁN C. A novel mutation (4386delagag) at codon 1462 of the APC gene shows an extceptionally severe phenotype in familial adenomatous polyposis Spanish families. Fam Cancer 2005; 4: 65-66.
50. DE LA CHAPELLE A. Genetic predisposition to colorectal cancer. Nat Rev Cancer 2004; 4: 769-780.
51. HEPPNER GOSS K, TRZEPACZ C, TUOHY TM, GRODEN J. Attenuated APC alleles produce functional protein from internal translation initiation. Proc Natl Acad Sci U S A. 2002; 99: 8161-8166.
52. BERTARIO L, RUSSO A, SALA P, VARESCO L, GIAROLA M, MONDINI P et al. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 2003; 21: 1698-707.
53. AL-TASSAN N, CHMIEL NH, MAYNARD J, FLEMING N, LIVINGSTON AL, WILLIAMS GT et al. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227-232.
54. SLUPSKA MM, BAIKALOV C, LUTHER WM, CHIANG JH, WEI YF, MILLER JH. Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative ADN damage. J Bacteriol 1996; 178: 3885-3892.
55. LIPTON L, HALFORD SE, JOHNSON V, NOVELLI MR, JONES A, CUMMINGS C et al. Carcinogenesis in MYH-Associated Polyposis follows a distinct genetic pathway. Cancer Res 2003; 63: 7595-7599.
56. SIEBER OM, LIPTON L, CRABTREE M, HEINIMANN K, FIDALGO P, PHILLIPS RK et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: 791-799.
57. ENHOLM S, HIENONEN T, SUOMALAINEN A, LIPTON L, TOMLINSON I, KARJA V et al. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol 2003; 163: 827-832.
58. RENKONEN ET, NIEMINEN P, ABDEL-RAHMAN W M, MOISIO AL, JARVELA I, ARTE S et al. Adenomatous Polyposis Families that screen APC mutation-negative by conventional methods are genetically heterogeneous. J Clin Oncol 2005; 23: 5651-5659.
59. WATSON P, LYNCH HT. The tumor spectrum in HNPCC. Anticancer Res 1994; 14: 1635-1639.
60. AARNIO M, SANKILA R, PUKKALA E, SALOVAARA R, AALTONEN LA, DE LA CHAPELLE A et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999; 81: 214-218.
61. VASEN HF, WIJNEN JT, MENKO FH, KLEIBEUKER JH, TAAL BG, GRIFFIOEN G et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996; 110: 1020-1027.
62. HAMILTON SR, LIU B, PARSONS RE, PAPADOPOULOS N, JEN J, POWELL SM et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995; 332: 839-847.
63. JASS JR, SMYRK TC, STEWART SM, LANE MR, LANSPA SJ, LYNCH HT. Pathology of hereditary non-polyposis colorectal cancer. Anticancer Res 1994; 14: 1631-1634.
64. JASS JR. Colorectal adenoma progression and genetic change: is there a link? Ann Med 1995; 27: 301-306.
65. LIU B, PARSONS RE, HAMILTON SR, PETERSEN GM, LYNCH HT, WATSON P et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res 1994; 54: 4590-4594.
66. KURAGUCHI M, YANG K, WONG E, AVDIEVICH E, FAN K, KOLODNER RD et al. The distinct spectra of tumor-associated Apc mutations in mismatch repair-deficient Apc1638N mice define the roles of MSH3 and MSH6 in DNA repair and intestinal tumorigenesis. Cancer Res 2001; 61: 7934-7942.
67. WU Y, BERENDS MJ, POST JG, MENSINK RG, VERLIND E, VAN DER SLUIS T et al. Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 2001; 120: 1580-1587.
68. SUTER CM, MARTIN DI, WARD RL. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 2004; 36: 497-501.
69. LIU T, WAHLBERG S, BUREK E, LINDBLOM P, RUBIO C, LINDBLOM A. Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. Genes Chromosomes Cancer 2000; 27: 17-25.
70. DIETMAIER W, WALLINGER S, BOCKER T, KULLMANN F, FISHEL R, RUSCHOFF J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997; 57: 4749-4756.
71. DOMINGO E, NIESSEN RC, OLIVEIRA C, ALHOPURO P, MOUTINHO C, ESPIN E et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene 2005; 24: 3995-3998.
72. SCHWEIZER P, MOISIO AL, KUISMANEN SA, TRUNINGER K, VIERUMAKI R, SALOVAARA R et al. Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer. Cancer Res 2001; 61: 2813-2815.
73. JAGER AC, BISGAARD ML, MYRHOJ T, BERNSTEIN I, REHFELD JF, NIELSEN FC. Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression. Am J Hum Genet 1997; 61: 129-138.
74. HENDRIKS YM, WAGNER A, MORREAU H, MENKO F, STORMORKEN A, QUEHENBERGER F et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology 2004; 127: 17-25.
75. ALONSO A, MORENO S, ARTIGAS M, GUERRA A, MONTES M, BORDA F. hMSH6 mutations cause later disease in hereditary nonpolyposis colorectal cancer patients. Fam Cancer 2005; 4: 67.
76. JONES JS, CHI X, GU X, LYNCH PM, AMOS CI, FRAZIER ML. p53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population. Clin Cancer Res 2004; 10: 5845-5849.
77. PEUTZ, JLA. On a very remarkable case of familial polyposis of the mucous membrane of the intestinal tract and nasopharynx accompanied by peculiar pigmentation of the skin and mucous mebrane. Nederlandsch Tijdschrift voor Geneeskunde Jaar 1921; 10: 136-146.
78. JEGHERS H, MCCUSICK VA, KATZ KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: a syndrome of diagnostic significance. N Eng J Med 1949; 241: 1031-1036.
79. HEMMINKI A, MARKIE D, TOMLINSON I. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998; 391: 184-187.
80. JASS J. Related Hyperplastic polyps of the colorectum-innocent or guilty? Dis Colon Rectum 2001; 44: 163-166.
81. JÄRVINEN H. Juvenile gastrointestinal polyposis. Probl Gen Surg, 1993; 10: 749-757.
82. LLOYD KM. DENNIS M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann of Int Med 1963; 58: 136-142.
83. ZONANA J, RIMOIN DL, DAVIS DC. Macrocephaly with multiple lipomas and hemangiomas. J Pediatrics 1976: 89: 600-603.
84. BANNAYAN GA. Lipomatosis, angiomatosis, and macrencephalia: a previously undescribed congenital syndrome. Arch Path 1971; 92: 1-5.
85. ARCH EM, GOODMAN BK, VAN WESEP RA. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 1997; 71: 489-493.
86. ELLIS NA, GRODEN J, YE TZ, STRAUGHEN J, LENNON DJ, CIOCCI S et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995; 83: 655-666.
87. YOUNG J, BARKER MA, SIMMS LA, WALSH MD, BIDEN KG, BUCHANAN D et al. Evidence for BRAF mutation and variable levels of microsatellite instability in a syndrome of familial colorectal cancer. Clin Gastroenterol Hepatol 2005; 3: 254-263.
88. JAEGER EE, WOODFORD-RICHENS KL, LOCKETT M, ROWAN AJ, SAWYER EJ, HEINIMANN K et al. An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet 2003; 72: 1261-1267.
89. LIPTON L, CHOW E, BARKER M, BUCHANAN D, YOUNG J, LEGGET B et al. Hyperplastic polyposis syndrome: Phenotype and the role of MBD4. Fam Cancer 2004; 4: 34-35.
90. LAKEN SJ, PETERSEN GM, GRUBER SB, ODDOUX C, OSTRER H, GIARDIELLO FM et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 1997; 17: 79-83.
91. OLDENBURG RA, KROEZE-JANSEMA K, KRAAN J, MORREAU H, KLIJN JG, HOOGERBRUGGE N et al. The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res 2003; 63: 8153-8157.