An update on the genetics of colorectal cancer

Human Molecular Genetics

Volumn 13, Issue REV. ISS. 2, 2004, Pages

  Kemp, Zoe ^a   Thirlwell, Cristina ^a   Sieber, Oliver ^a   Silver, Andrew ^b   Tomlinson, Ian ^a,b  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b ST MARK S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

2 DIPROPYLAMINO 8 HYDROXY 1 METHYLTETRALIN; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); APC PROTEIN; AXIN; DNA GLYCOSYLTRANSFERASE; MISMATCH REPAIR PROTEIN PMS2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN SERINE THREONINE KINASE; SMAD4 PROTEIN;

ADENOMATOUS POLYP; ALLELE; CANCER GENETICS; CANCER GROWTH; CANCER MORTALITY; CANCER PREVENTION; CANCER RISK; CAUSE OF DEATH; COLORECTAL CANCER; DIAGNOSTIC ACCURACY; ENVIRONMENTAL FACTOR; FAMILIAL CANCER; GENE IDENTIFICATION; GENE INTERACTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; LINKAGE ANALYSIS; MULTIFACTORIAL INHERITANCE; OUTCOMES RESEARCH; PENETRANCE; PEUTZ JEGHERS SYNDROME; POLYPOSIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVIEW; UNITED KINGDOM;

COLORECTAL NEOPLASMS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MOLECULAR BIOLOGY; PENETRANCE; POLYMORPHISM, GENETIC;

EID: 5444242604     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh247     Document Type: Review

References (104)

1. Cannon-Albright, L.A., Skolnick, M.H., Bishop, D.T., Lee, R.G. and Burt, R.W. (1988) Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N. Engl. J. Med., 319, 533-537.
2. Houlston, R.S., Collins, A., Slack, J. and Morton, N.E. (1992) Dominant genes for colorectal cancer are not rare. Ann. Hum. Genet., 56 (Pt 2), 99-103.
3. Johns, L.E. and Houlston, R.S. (2001) A systematic review and meta-analysis of familial colorectal cancer risk. Am. J. Gastroenterol , 96, 2992-3003.
4. Lichtenstein, P., Holm, N.V., Verkasalo, P.K., Iliadou, A., Kaprio, J., Koskenvuo, M., Pukkala, E., Skytthe, A. and Hemminki, K. (2000) Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N. Engl. J. Med., 343, 78-85.
5. Demant, P. (2003) Cancer susceptibility in the mouse: genetics, biology and implications for human cancer. Nat. Rev. Genet , 4, 721-734.
6. Crabtree, M.D., Tomlinson, I.P., Hodgson, S.V., Neale, K., Phillips, R.K. and Houlston, R.S. (2002) Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut, 51, 420-423.
7. Al-Tassan, N., Chmiel, N.H., Maynard, J., Fleming, N., Livingston, A.L., Williams, G.T., Hodges, A.K., Davies, D.R., David, S.S., Sampson, J.R. et al. (2002) Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat. Genet., 30, 227-232.
8. Sieber, O.M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R.K., Bisgaard, M.L., Orntoft, T.F., Aaltonen, L.A., Hodgson, S.V. et al. (2003) Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N. Engl. J. Med., 348, 791-799.
9. Wang, L., Baudhuin, L.M., Boardman, L.A., Steenblock, K.J., Petersen, G.M., Halling, K.C., French, A.J., Johnson, R.A., Burgart, L.J., Rabe, K. et al. (2004) MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology, 127, 9-16.
10. Halford, S.E., Rowan, A.J., Lipton, L., Sieber, O.M., Pack, K., Thomas, H.J., Hodgson, S.V., Bodmer, W.F. and Tomlinson, I.P. (2003) Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am. J Pathol., 162, 1545-1548.
11. Jones, S., Emmerson, P., Maynard, J., Best, J.M., Jordan, S., Williams, G.T., Sampson, J.R. and Cheadle, J.P. (2002) Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C → T:A mutations. Hum. Mol. Genet., 11, 2961-2967.
12. Enholm, S., Hienonen, T., Suomalainen, A., Lipton, L., Tomlinson, I., Karja, V., Eskelinen, M., Mecklin, J.P., Karhu, A., Jarvinen, H.J. et al. (2003) Proportion and phenotype of MYH associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am. J. Pathol., 163, 827-832.
13. Gismondi, V., Meta, M., Bonelli, L., Radice, P., Sala, P., Bertario, L., Viel, A., Fornasarig, M., Arrigoni, A., Gentile, M. et al. (2004) Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int. J. Cancer, 109, 680-684.
14. Lipton, L., Halford, S.E., Johnson, V., Novelli, M.R., Jones, A., Cummings, C., Barclay, E., Sieber, O., Sadat, A., Bisgaard, M.L. et al. (2003) Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res., 63, 7595-7599.
15. Lipton, L., Sieber, O.M., Thomas, H.J., Hodgson, S.V., Tomlinson, I.P. and Woodford-Richens, K. (2003) Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the 'multiple' adenoma phenotype. J Med. Genet., 40, e35.
16. Lammi, L., Arte, S., Somer, M., Jarvinen, H., Lahermo, P., Thesleff, I., Pirinen, S. and Nieminen, P. (2004) Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am. J. Hum. Genet., 74, 1043-1050.
17. De Leng, W.W., Westerman, A.M., Weterman, M.A., De Rooij, F.W., Dekken Hv, H., De Goeij, A.F., Gruber, S.B., Wilson, J.H., Offerhaus, G.J., Giardiello, F.M. et al. (2003) Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas. Clin. Cancer Res., 9, 3065-3072.
18. Liu, W.K., Chien, C.Y., Chou, C.K. and Su, J.Y. (2003) An LKB1-interacting protein negatively regulates TNFalpha-induced NF-kappaB activation. J. Biomed. Sci., 10, 242-252.
19. Martin, S.G. and St Johnston, D. (2003) A role for Drosophila LKB1 in anterior-posterior axis formation and epithelial polarity. Nature, 421, 379-384.
20. Ossipova, O., Bardeesy, N., DePinho, R.A. and Green, J.B. (2003) LKB1 (XEEK1) regulates Wnt signalling in vertebrate development. Nat. Cell Biol., 5, 889-894.
21. Baas, A.F., Smit, L. and Clevers, H. (2004) LKB1 tumor suppressor protein: PARtaker in cell polarity. Trends Cell. Biol., 14, 312-319.
22. Baas, A.F., Kuipers, J., van der Wel, N.N., Batlle, E., Koerten, H.K., Peters, P.J. and Clevers, H.C. (2004) Complete polarization of single intestinal epithelial cells upon activation of LKB1 by STRAD. Cell, 116, 457-466.
23. Lizcano, J.M., Goransson, O., Toth, R., Deak, M., Morrice, N.A., Boudeau, J., Hawley, S.A., Udd, L., Makela, T.P., Hardie, D.G. et al. (2004) LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1. EMBO J., 23, 833-843.
24. Shaw, R.J., Bardeesy, N., Manning, B.D., Lopez, L., Kosmatka, M., DePinho, R.A. and Cantley, L.C. (2004) The LKB1 tumor suppressor negatively regulates mTOR signaling. Cancer Cell, 6, 91-99.
25. Spicer, J. and Ashworth, A. (2004) LKB1 kinase: master and commander of metabolism and polarity. Curr. Biol., 14, R383-R385.
26. Olschwang, S., Markie, D., Seal, S., Neale, K., Phillips, R., Cottrell, S., Ellis, I., Hodgson, S., Zauber, P., Spigelman, A. et al. (1998) Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. J Med. Genet., 35, 42-44.
27. Buchet-Poyau, K., Mehenni, H., Radhakrishna, U. and Antonarakis, S.E. (2002) Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK111P gene on chromosome 2. Cytogenet. Genome Res., 97, 171-178.
28. Lampe, A.K., Hampton, P.J., Woodford-Richens, K., Tomlinson, I., Lawrence, C.M. and Douglas, F.S. (2003) Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome. J. Med. Genet., 40, e77.
29. Suter, C.M., Martin, D.I. and Ward, R.L. (2004) Germline epimutation of MLH1 in individuals with multiple cancers. Nat. Genet., 36, 497-501.
30. Wu, Y., Berends, M.J., Sijmons, R.H., Mensink, R.G., Verlind, E., Kooi, K.A., van der Sluis, T., Kempinga, C., van der Zee, A.G., Hollema, H. et al. (2001) A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat. Genet., 29, 137-138.
31. Liu, H.X., Zhou, X.L., Liu, T., Werelius, B., Lindmark, G., Dahl, N. and Lindblom, A. (2003) The role of hMLH3 in familial colorectal cancer. Cancer Res., 63, 1894-1899.
32. Hienonen, T., Laiho, P., Salovaara, R., Mecklin, J.P., Jarvinen, H., Sistonen, P., Peltomaki, P., Lehtonen, R., Nupponen, N.N., Launonen, V. et al. (2003) Little evidence for involvement of MLH3 in colorectal cancer predisposition. Int. J Cancer, 106 292-296.
33. Wu, Y., Berends, M.J., Post, J.G., Mensink, R.G., Verlind, E., van der Sluis, T., Kempinga, C., Sijmons, R.H., van der Zee, A.G., Hollema, H. et al. (2001) Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology, 120, 1580-1587.
34. Tomlinson, I. and Houlston, R. (2001) Is EXO1 a colon cancer predisposition gene? Gastroenterology, 120, 1860-1862.
35. Alam, N.A., Gorman, P., Jaeger, E.E., Kelsell, D., Leigh, I.M., Ratnavel, R., Murdoch, M.E., Houlston, R.S., Aaltonen, L.A., Roylance, R.R. et al. (2003) Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet. Cytogenet., 147, 121-127.
36. Jagmohan-Changur, S., Poikonen, T., Vilkki, S., Launonen, V., Wikman, F., Orntoft, T.F., Moller, P., Vasen, H., Tops, C., Kolodner, R.D. et al. (2003) EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer. Cancer Res., 63, 154-158.
37. Johnson, V., Volikos, E., Talbot, I., Tomlinson, I. and Silver, A. (2004) Beta-catenin mutations are specific to carcinomas in the HNPCC syndrome. Gut, in press.
38. Jiricny, J. and Marra, G. (2003) DNA repair defects in colon cancer. Curr. Opin. Genet. Dev., 13, 61-69.
39. Crabtree, M., Sieber, O.M., Lipton, L., Hodgson, S.V., Lamlum, H., Thomas, H.J., Neale, K., Phillips, R.K., Heinimann, K. and Tomlinson, I.P. (2003) Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients. Oncogene, 22, 4257-4265.
40. Lamlum, H., Ilyas, M., Rowan, A., Clark, S., Johnson, V., Bell, J., Frayling, I., Efstathiou, J., Pack, K., Payne, S. et al. (1999) 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., 5, 1071-1075.
41. Rowan, A.J., Lamlum, H., Ilyas, M., Wheeler, J., Straub, J., Papadopoulou, A., Bicknell, D., Bodmer, W.F. and Tomlinson, I.P. (2000) APC mutations in sporadic colorectal tumors: a mutational 'hotspot' and interdependence of the 'two hits'. Proc. Natl Acad. Sci. USA, 97 3352-3357.
42. Albuquerque, C., Breukel, C., van der Luijt, R., Fidalgo, P., Lage, P., Slors, F.J., Leitao, C.N., Fodde, R. and Smits, R. (2002) 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., 11, 1549-1560.
43. Groves, C., Lamlum, H., Crabtree, M., Williamson, J., Taylor, C., Bass, S., Cuthbert-Heavens, D., Hodgson, S., Phillips, R. and Tomlinson, I. (2002) Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis. Am. J. Pathol. 160, 2055-2061.
44. Spirio, L.N., Samowitz, W., Robertson, J., Robertson, M., Burt, R.W., Leppert, M. and White, R. (1998) Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nat. Genet., 20, 385-388.
45. Su, L.K., Barnes, C.J., Yao, W., Qi, Y., Lynch, P.M. and Steinbach, G. (2000) Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. Am. J. Hum. Genet., 67, 582-590.
46. Crabtree, M.D., Tomlinson, I.P., Talbot, I.C. and Phillips, R.K. (2001) Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age. Gut, 49, 540-543.
47. Bertario, L., Russo, A., Sala, P., Eboli, M., Giarola, M., D'Amico, F., Gismondi, V., Varesco, L., Pierotti, M.A. and Radice, P. (2001) Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int. J Cancer, 95, 102-107.
48. Dietrich, W.F., Lander, E.S., Smith, J.S., Moser, A.R., Gould, K.A., Luongo, C., Borenstein, N. and Dove, W. (1993) Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse. Cell, 75, 631-639.
49. MacPhee, M., Chepenik, K.P., Liddell, R.A., Nelson, K.K., Siracusa, L.D. and Buchberg, A.M. (1995) The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia. Cell, 81, 957-966.
50. Cormier, R.T., Hong, K.H., Halberg, R.B., Hawkins, T.L., Richardson, P., Mulherkar, R., Dove, W.F. and Lander, E.S. (1997) Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis. Nat. Genet., 17, 88-91.
51. Crabtree, M.D., Fletcher, C., Churchman, M., Hodgson, S.V., Neale, K., Phillips, R.K. and Tomlinson, I.P. (2004) Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. Gut, 53, 271-276.
52. Laken, S.J., Petersen, G.M., Gruber, S.B., Oddoux, C., Ostrer, H., Giardiello, F.M., Hamilton, S.R., Hampel, H., Markowitz, A., Klimstra, D. et al. (1997) Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat. Genet., 17, 79-83.
53. Strul, H., Barenboim, E., Leshno, M., Gartner, M., Kariv, R., Aljadeff, E., Aljadeff, Y., Kazanov, D., Strier, L., Keidar, A. et al. (2003) The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews. Cancer Epidemiol. Biomark. Prev., 12, 1012-1015.
54. Sieber, O., Lipton, L., Heinimann, K. and Tomlinson, I. (2003) Colorectal tumourigenesis in carriers of the APC I1307K variant: lone gunman or conspiracy? J. Pathol., 199, 137-1379.
55. Whitelaw, S.C., Murday, V.A., Tomlinson, I.P., Thomas, H.J., Cottrell, S., Ginsberg, A., Bukofzer, S., Hodgson, S.V., Skudowitz, R.B., Jass, J.R. et al. (1997) Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology, 112, 327-334.
56. Thomas, H.J., Whitelaw, S.C., Cottrell, S.E., Murday, V.A., Tomlinson, I.P., Markie, D., Jones, T., Bishop, D.T., Hodgson, S.V., Sheer, D. et al. (1996) Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. Am. J Hum. Genet., 58, 770-776.
57. Tomlinson, I., Rahman, N., Frayling, I., Mangion, J., Barfoot, R., Hamoudi, R., Seal, S., Northover, J., Thomas, H.J., Neale, K. et al. (1999) Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. Gastroenterology, 116, 789-795.
58. Jaeger, E.E., Woodford-Richens, K.L., Lockett, M., Rowan, A.J., Sawyer, E.J., Heinimann, K., Rozen, P., Murday, V.A., Whitelaw, S.C., Ginsberg, A. et al. (2003) An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am. J. Hum. Genet., 72, 1261-1267.
59. Wiesner, G.L., Daley, D., Lewis, S., Ticknor, C., Platzer, P., Lutterbaugh, J., MacMillen, M., Baliner, B., Willis, J., Elston, R.C. et al. (2003) A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2. Proc. Natl Acad. Sci. USA, 100 12961-12965.
60. Wacholder, S., Chanock, S., Garcia-Closas, M., El Ghormli, L. and Rothman, N. (2004) Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl Cancer Inst., 96, 434-442.
61. Egger, M., Smith, G.D. and Sterne, J.A. (2001) Uses and abuses of meta-analysis. Clin. Med., 1, 478-484.
62. Sterne, J.A. and Egger, M. (2001) Funnel plots for detecting bias in meta-analysis: guidelines on choice of axis. J. Clin. Epidemiol., 54, 1046-1055.
63. Houlston, R.S. and Tomlinson, I.P. (2001) Polymorphisms and colorectal tumor risk. Gastroenterology, 121, 282-301.
64. de Jong, M.M., Nolte, I.M., te Meerman, G.J., van der Graaf, W.T., de Vries, E.G., Sijmons, R.H., Hofstra, R.M. and Kleibeuker, J.H. (2002) Low-penetrance genes and their involvement in colorectal cancer susceptibility. Cancer Epidemiol. Biomark. Prev., 11, 1332-1352.
65. Gruber, S.B., Ellis, N.A., Scott, K.K., Almog, R., Kolachana, P., Bonner, J.D., Kirchhoff, T., Tomsho, L.P., Nafa, K., Pierce, H. et al. (2002) BLM heterozygosity and the risk of colorectal cancer. Science, 297, 2013.
66. Cleary, S.P., Zhang, W., Di Nicola, N., Aronson, M., Aube, J., Steinman, A., Haddad, R., Redston, M., Gallinger, S., Narod, S.A. et al. (2003) Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res., 63, 1769-1771.
67. Sharp, L. and Little, J. (2004) Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am. J. Epidemiol., 159, 423-443.
68. Grieu, F., Malaney, S., Ward, R., Joseph, D. and Iacopetta, B. (2003) Lack of association between CCND1 G870A polymorphism and the risk of breast and colorectal cancers. Anticancer Res., 23 4257-4259.
69. Le Marchand, L., Seifried, A., Lum-Jones, A., Donlon, T. and Wilkens, L.R. (2003) Association of the cyclin D1 A870G polymorphism with advanced colorectal cancer. J. Am. Med. Assoc., 290, 2843-2848.
70. Shin, Y., Kim, I.J., Kang, H.C., Park, J.H., Park, H.W., Jang, S.G., Lee, MR., Jeong, S.Y., Chang, H.J., Ku, J.L. et al. (2004) A functional polymorphism (-347 G → GA) in the E-cadherin gene is associated with colorectal cancer. Carcinogenesis, in press.
71. Ulrich, C.M., Bigler, J., Sparks, R., Whitton, J., Sibert, J.G., Goode, E.L., Yasui, Y. and Potter, J.D. (2004) Polymorphisms in PTGS1 ( = COX-1) and risk of colorectal polyps. Cancer Epidemiol. Biomark. Prev., 13, 889-893.
72. Lin, H.J., Lakkides, K.M., Keku, T.O., Reddy, S.T., Louie, A.D., Kau, I.H., Zhou, H., Gim, J.S., Ma, H.L., Matthies, C.F. et al. (2002) Prostaglandin H synthase 2 variant (Va1511Ala) in African Americans may reduce the risk for colorectal neoplasia. Cancer Epidemiol. Biomark. Prev., 11, 1305-1315.
73. Shaheen, N.J., Silverman, L.M., Keku, T., Lawrence, L.B., Rohlfs, E.M., Martin, C.F., Galanko, J. and Sandler, R.S. (2003) Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer. J. Natl Cancer Inst., 95 154-159.
74. Slattery, M.L., Samowitz, W., Curtin, K., Ma, K.N., Hoffman, M., Caan, B. and Neuhausen, S. (2004) Associations among IRS1, IRS2, IGF1, and IGFBP3 genetic polymorphisms and colorectal cancer. Cancer Epidemiol. Biomark. Prev., 13, 1206-1214.
75. Slattery, M.L., Samowitz, W., Hoffman, M., Ma, K.N., Levin, T.R. and Neuhausen, S. (2004) Aspirin, NSAIDs, and colorectal cancer: possible involvement in an insulin-related pathway. Cancer Epidemiol. Biomark. Prev., 13, 538-545.
76. Landi, S., Moreno, V., Gioia-Patricola, L., Guino, E., Navarro, M., de Oca, J., Capella, G. and Canzian, F. (2003) Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer. Cancer Res., 63, 3560-3566.
77. Lipkin, S.M., Rozek, L.S., Rennert, G., Yang, W., Chen, P.C., Hacia, J., Hunt, N., Shin, B., Fodor, S., Kokoris, M. et al. (2004) The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat. Genet., 36, 694-699.
78. de Jong, M.M., Hofstra, R.M., Kooi, K.A., Westra, J.L., Berends, M.J., Wu, Y., Hollema, H., van der Sluis, T., van der Graaf, W.T., de Vries, E.G. et al. (2004) No association between two MLH3 variants (S845G and P844L) and colorectal cancer risk. Cancer Genet. Cytogenet., 152, 70-71.
79. Hinoda, Y., Okayama, N., Takano, N., Fujimura, K., Suehiro, Y., Hamanaka, Y., Hazama, S., Kitamura, Y., Kamatani, N. and Oka, M. (2002) Association of functional polymorphisms of matrix metalloprotemase (MMP)-I and MMP-3 genes with colorectal cancer. Int. J. Cancer, 102, 526-529.
80. Matsuo, K., Hamajima, N., Hirai, T., Kato, T., Inoue, M., Takezaki, T. and Tajima, K. (2002) Methionine synthase reductase gene A66G polymorphism is associated with risk of colorectal cancer. Asian Pac. J. Cancer Prev., 3, 353-359.
81. Goode, E.L., Potter, J.D., Bigler, J. and Ulrich, C.M. (2004) Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenoma risk. Cancer Epidemiol. Biomark. Prev., 13, 157-162.
82. Loktionov, A., Watson, M.A., Stebbings, W.S., Speakman, C.T. and Bingham, S.A. (2003) Plasminogen activator inhibitor-1 gene polymorphism and colorectal cancer risk and prognosis. Cancer Lett. 189, 189-196.
83. Sparks, R., Bigler, J., Sibert, J.G., Potter, J.D., Yasui, Y. and Ulrich, C.M. (2004) TGF beta1 polymorphism (L10P) and risk of colorectal adenomatous and hyperplastic polyps. Int. J. Epidemiol., in press.
84. Pasche, B., Kaklamani, V., Hou, N., Young, T., Rademaker, A., Peterlongo, P., Ellis, N., Offit, K., Caldes, T., Reiss, M. et al. (2004) TGFBR1*6A and cancer: a meta-analysis of 12 case-control studies. J. Clin. Oncol., 22, 756-758.
85. Chen, J., Hunter, D.J., Stampfer, M.J., Kyte, C., Chan, W., Wetmur, J.G., Mosig, R., Selhub, J. and Ma, J. (2003) Polymorphism in the thymidylate synthase promoter enhancer region modifies the risk and survival of colorectal cancer. Cancer Epidemiol Biomark. Prev., 12, 958-962.
86. Ulrich, C.M., Bigler, J., Bostick, R., Fosdick, L. and Potter, J.D. (2002) Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas. Cancer Res., 62, 3361-3364.
87. Wong, H.L., Seow, A., Arakawa, K., Lee, H.P., Yu, M.C. and Ingles, S.A. (2003) Vitamin D receptor start codon polymorphism and colorectal cancer risk: effect modification by dietary calcium and fat in Singapore Chinese. Carcinogenesis, 24, 1091-1095.
88. Couzin, J. (2004) Genomics. Consensus emerges on HapMap strategy. Science, 304, 671-673.
89. Cut, H., Cruz-Correa, M., Giardiello, F.M., Hutcheon, D.F., Kafonek, D.R., Brandenburg, S., Wu, Y., He, X., Powe, N.R. and Feinberg, A.P. (2003) Loss of IGF2 imprinting: a potential marker of colorectal cancer risk. Science, 299, 1753-1755.
90. Cruz-Correa, M., Cui, H., Giardiello, F.M., Powe, N.R., Hylind, L., Robinson, A., Hutcheon, D.F., Kafonek, D.R., Brandenburg, S., Wu, Y. et al. (2004) Loss of imprinting of insulin growth factor II gene: a potential heritable biomarker for colon neoplasia predisposition. Gastroenterology, 126, 964-970.
91. Woodson, K., Flood, A., Green, L., Tangrea, J.A., Hanson, J., Cash, B., Schatzkin, A. and Schoenfeld, P. (2004) Loss of insulin-like growth factor-II imprinting and the presence of screen-detected colorectal adenomas in women. J. Natl Cancer Inst., 96, 407-410.
92. Jirtle, R.L. (2004) IGF2 loss of imprinting: a potential heritable risk factor for colorectal cancer. Gastroenterology, 126, 1190-1193.
93. White, S., Bubb, V.J. and Wyllie, A.H. (1996) Germline APC mutation (Gln1317) in a cancer-prone family that does not result in familial adenomatous polyposis. Genes Chromosomes Cancer, 15, 122-128.
94. Frayling, I.M., Beck, N.E., Ilyas, M., Dove-Edwin, I., Goodman, P., Pack, K., Bell, J.A., Williams, C.B., Hodgson, S.V., Thomas, H.J. et al. (1998) The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc. Natl Acad. Sci. USA, 95, 10722-10727.
95. Popat, S., Stone, J., Coleman, G., Marshall, G., Peto, J., Frayling, I. and Houlston, R. (2000) Prevalence of the APC E1317Q variant in colorectal cancer patients. Cancer Lett., 149, 203-206.
96. Gismondi, V., Bonelli, L., Sciallero, S., Margiocco, P., Viel, A., Radice, P., Mondini, P., Sala, P., Montera, M.P., Mareni, C. et al. (2002) Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas. Genet. Test., 6 313-317.
97. Hahnloser, D., Petersen, G.M., Rabe, K., Snow, K., Lindor, N.M., Boardman, L., Koch, B., Doescher, D., Wang, L., Steenblock, K. et al. (2003) The APC E1317Q variant in adenomatous polyps and colorectal cancers. Cancer Epidemiol. Biomark. Prev., 12, 1023-1028.
98. Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., Wasielewski, M., de Snoo, A., Oldenburg, R., Hollestelle, A., Houben, M., Crepin, E., van Veghel-Plandsoen, M. et al. (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat. Genet., 31, 55-59.
99. Houlston, R.S. and Tomlinson, I.P. (2000) Detecting low penetrance genes in cancer: the way ahead. J. Med. Genet., 37 161-167.
100. Risch, N. (2001) Implications ofmultilocus inheritance for gene-disease association studies. Theor. Popul. Biol., 60, 215-220.
101. Houlston, R.S. and Peto, J. (2003) The future of association studies of common cancers. Hum. Genet., 112, 434-435.
102. Botstein, D. and Risch, N. (2003) Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet., 33 (suppl.), 228-237.
103. Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M. et al. (2002) The structure of haplotype blocks in the human genome. Science, 296, 2225-2229.
104. Satsangi, J., Parkes, M., Jewell, D.P. and Bell, J.I. (1998) Genetics of inflammatory bowel disease (Review). Clin. Sci. (London 94, 473-478.