Colorectal cancer as a complex disease: defining at-risk subjects in the general population – a preventive strategy

References

• Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. C1161, 759–767 (1990).
   Google Scholar
• Lindgren G, Liljegren A, Jaramillo E et al Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut 50,228–234 (2002).
   PubMed Web of Science ®Google Scholar
• •Follow-up study in patients undergoing regular preventive colonoscopies for 10 years.
   Google Scholar
• Liljegren A, Lindblom A, Rotstein S et al Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps. Gut52, 1140–1147 (2003).
   PubMed Web of Science ®Google Scholar
• •Demonstrated a clear correlation between adenoma and hyperplastic polyps in patients under surveillance.
   Google Scholar
• Cannon-Albright LA, Skolnick MET, Bishop DT, Lee RG, Burt RVV. Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl. I Merl 319 (9), 533–537 (1988).
   Google Scholar
• Carstensen B, Soll-Johanning H, Villadsen E, Sondergaard JO, Lynge E. Familial aggregation of colorectal cancer in the general population. Int. j Cancer68(4), 428–435 (1996).
   PubMedGoogle Scholar
• Fuchs CS, Giovannucci EL, Colditz GA, Hunter DJ, Speizer FE, Willett WC. A prospective study of family history and the risk of colorectal cancer. N Engl. Merl 331(25), 1669–1674 (1994).
   Google Scholar
• Johns LE, Houlston RS. A systematic review and meta-analysis of familial colorectal cancer risk. Am. I Gastroenterol 96(10), 2992–3003 (2001).
   PubMed Web of Science ®Google Scholar
• Lovett E. Family studies in cancer of the colon and rectum. BE I Surg. 63(1), 13–18 (1976).
   Google Scholar
• St John DJ, McDermott FT, Hopper JL, Debney EA, Johnson WR, Hughes ES. Cancer risk in relatives of patients with common colorectal cancer. Ann. Intern. Merl 118(10), 785–790 (1993).
   Google Scholar
• Liljegren A, Lindgren G, Brandberg Y et al Individuals with an increased risk for colorectal cancer — perceived benefit and psychological aspects on surveillance by means of regular colonoscopies. I Clin. Oncol (2004) (In Press).
   Google Scholar
• •Demonstrates that patients under surveillance tolerate this preventive strategy.
   Google Scholar
• Järvinen HJ, Aamio M, Mustonen H et al Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastmenterology118,829–834 (2000).
   PubMed Web of Science ®Google Scholar
• •Demonstrates the value of preventive colonoscopy programs.
   Google Scholar
• Alm T, Licznerski G. The intestinal polyposes. Gun. Gastroenterol 2,577–602 (1973).
   Google Scholar
• Björk J, Akerbrant H, Iselius L et al. Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females. Scam I Gastroenterol 34, 1230–1235 (1999).
   PubMed Web of Science ®Google Scholar
• Olsson L, Lindblom A. Family history of colorectal cancer in a Sweden county. Fain. Cancer 2,87–93 (2003).
   PubMedGoogle Scholar
• Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA. Gardner syndrome in a man with an interstitial deletion of 5q. Aim Merl Genet. 25(3), 473–476 (1986).
   Google Scholar
• Bodmer WF, Bailey CJ, Bodmer J et al Localization of the gene for familial adenomatous polyposis on chromosome 5. Natum 328,614–616 (1987).
   PubMed Web of Science ®Google Scholar
• Groden J, Thliveris A, Samowitz W et al. Identification and characterization of thefamilial adenomatous polyposis coli gene. Ce1166, 589–600 (1991).
   Google Scholar
• Kinzler KW, Nilbert MC, Su LK et al. Identification of FAP locus genes from chromosome 5q21. Science 253,661–665 (1991).
   PubMed Web of Science ®Google Scholar
• Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fain. Cancer 2,43–55 (2003).
   Google Scholar
• Lynch HT, Krush AJ. Cancer family 'G' revisited: 1895–1970. Cancer 27(6),1505–1511 (1971).
   Google Scholar
• Mecldin JP, Jarvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 68, 1109–1112 (1991).
   PubMedGoogle Scholar
• Aarnio M, Sankila R, Puldcala E et al Cancer risk in mutation carriers of DNA-mismatch-repair genes. int. I Cancer 81, 214–218 (1999).
   PubMed Web of Science ®Google Scholar
• Peltomaki P, Aaltonen LA, Sistonen P et al Genetic mapping of a locus predisposing to human colorectal cancer. Science 260(5109), 810–812 (1993).
   PubMed Web of Science ®Google Scholar
• Lindblom A, Tannergard P, Werelius B, 25Aaltonen LA, Peltomaki P, Leach FS et al Clues to the pathogenesis of familial colorectal cancer. Science 260(5109), 812–816 (1993).
   Google Scholar
• Strand M, Prolla TA, Liskay RM et al Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365,274–276 (1993).
   PubMed Web of Science ®Google Scholar
• Fishel R, Lescoe MK, Rao MR et al The human mutator gene homologue MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75, 1027–1038 (1993).
   PubMed Web of Science ®Google Scholar
• Leach FS, Nicolaides NC, Papadopoulos N et al Mutations of a mutS homologue inhereditary nonpolyposis colorectal cancer. Ce1175, 1215–1225 (1993).
   Google Scholar
• Bronner CE, Baker SM, Morrison PT et al Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature368, 258–261 (1994).
   PubMed Web of Science ®Google Scholar
• Papadopoulos N, Nicolaides NC, Wei YF et al Mutation of a mutL homolog in hereditary colon cancer. Science 263, 1625–1629 (1994).
   PubMed Web of Science ®Google Scholar
• Miyaki M, Konishi M, Tanaka K et al Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet. 17,271–272 (1997).
   PubMed Web of Science ®Google Scholar
• Huang J, Kuismanen SA, Liu T et al MSH6 and MSH3 are rarely involved in genetic predisposition to non-polypotic colon cancer. Cancer Res. 61,1619–1623 (2001).
   PubMed Web of Science ®Google Scholar
• Liu T, Han H, Kuismanen S et al The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. Cancer Res. 61(21), 7798–7802 (2001).
   Google Scholar
• Liu HX, Zhou XL, Liu T et al The role of hMLH3 in familial colorectal cancer. Cancer Res. 63(8), 1894–1899 (2003).
   Google Scholar
• Liu T, Wahlberg S, Burek E et al Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. Genes Chromosomes Cancer27, 17–25 (2000).
   PubMedGoogle Scholar
• Wiesner GL, Daley D, Lewis S et al A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2. Proc. Natl Acad. ScL USA 100,12961–12965 (2003).
   Google Scholar
• ••Suggests locus for a predisposing gene.
   Google Scholar
• Al-Tassan N, Chmiel NH, Maynard J et al Inherited variants of MYH associated with somatic G:C>TA mutations in colorectal tumors. Natum Genet. 30(2), 227–232 (2002).
   Google Scholar
• Lipton L, Halford SE, Johnson V et al Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res. 63(22), 7595–7599 (2003).
   Google Scholar
• Sieber OM, Lipton L, Crabtree M et al Multiple colorectal adenomas, classic adenomatous polyposis and germ-line mutations in MYH. N Engl. I Med. 348(9), 791–799 (2003).
   Google Scholar
• Vasen HF, Mecklin JP, Khan PM et al The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum 34,424–425 (1991).
   PubMed Web of Science ®Google Scholar
• Meijers-Heijboer H, Wijnen J, Vasen H et al. The CHEK2 1100 deIC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am. Hum. Genet 72,1308–1314 (2003).
   Google Scholar
• Lichtenstein P, Holm NV, Verkasalo PK et al Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark and Finland. N Engl. I Med 13,78–85 (2000).
   Google Scholar
• Wei EK, Giovannucci E, Wu K et al Comparison of risk factors for colon and rectal cancer. Int. J. Cancer 20,433–442 (2004).
   Google Scholar
• Houlston RS, Tomlinson IPM. Polymorphisms and colorectal tumor risk. Gastroenterology 121,282–301 (2001) .
   PubMed Web of Science ®Google Scholar
• •Review of association studies and colorectal cancer.
   Google Scholar
• de Jong MM, Note TM, te Meerman GJ et al Low penetrance genes and their involvement in colorectal cancer susceptibility. Cancer Epidemiol Biomarkers. Prey 11, 1332–1352 (2002).
   PubMed Web of Science ®Google Scholar
• •Review of association studies and colorectal cancer.
   Google Scholar
• Keku TO, Millikan RC, Martin C, Rahkra-Burris TK, Sandler RS. Family history of colon cancer — what does it mean and how is it useful? Am J. Prey Med. 24,170–176 (2003).
   Google Scholar
• Vineis P, Schulte P, McMichael AJ. Misconceptions about the use of genetic tests in populations. Lancet 357,709–712 (2001).
   Google Scholar
• Laken SJ, Papadopoulos N, Petersen GM et al Analysis of masked mutations in familial adenomatous polyposis. Proc. Natl Acad. Sc]. USA 96(5), 2322–2326 (1999).
   Google Scholar
• Powell SM, Zilz N, Beazer-Barclay Y et al APC mutations occur early during colorectal tumorigenesis. Nature 359(6392), 235–237 (1992).
   PubMed Web of Science ®Google Scholar
• Laken SJ, Petersen GM, Gruber SB et al Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nature Genet. 17(1), 79–83 (1997).
   Google Scholar
• Strul H, Barenboim E, Leshno M et al The 11307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk for colorectal cancer in Ashkenazi Jews. Cancer Epidemiol Biomarkers. Prey 12,1012–1015 (2003).
   Google Scholar
• Moisio AL, Sistonen P, Mecklin JP, Jarvinen H, Peltomaki P. Genetic polymorphisms in carcinogen metabolism and their association to hereditary non-polyposis colon cancer. Gastroenterology 115,1387–1394 (1998).
   Google Scholar
• Markowitz S, Wang J, Myeroff L et al Inactivation of the Type II TGF-B receptor in colon cancer cells with microsatellite instability. Science 268,1336–1338 (1995).
   PubMed Web of Science ®Google Scholar
• Slattery ML, Potter JD, Samowitz W, Schaffer D, Leppert M. Methylenetretrahydrofolate reductase, diets and risk of colon cancer. Cancer Epidemiol Biomarkers. Prev 8,513–518 (1999).
   Google Scholar
• •Discussion of the contribution of genes and environment in colorectal cancer risk.
   Google Scholar
• Amin NS, Nguyen MN, Scott OH et al Exo1-dependent mutator mutations: model system for studying functional interactions in mismatch repair. Mal Cell Biol. 21, 5142–5155 (2001).
   Google Scholar
• Goldstein DB, Weale ME. Population genomics: linkage disequilibrium holds the key. CL117: Bid 11, 576–579 (2001).
   Google Scholar
• Reich DE, Cargill M, Bolk S et al Linkage disequilibrium in the human genome. Nature 411,199-204 (2001). Large-scale experiment of 19 randomly selected regions to study linkage disequilibrium for gene mapping.
   Google Scholar
• Risch NJ. Searching for genetic determinants in the new millennium. Nature 405,847–856 (2000).
   PubMed Web of Science ®Google Scholar
• ••Review of issues related to postgenomestrategies for unraveling genetic background in complex diseases.
   Google Scholar
• Clayton D, McKeigue PM. Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet358, 1356–1360 (2002).
   Google Scholar
• Rish N, Teng J. The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling. Genome Res. 8,1273–1288 (1998).
   PubMedGoogle Scholar
• Ionnidis JPA, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG. Replication validity of genetic association studies. Nature Genet. 29,306–309 (2001).
   PubMedGoogle Scholar
• Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet. Med. 4, 45–61 (2001).
   Google Scholar
• Tabor HK, Risch NJ, Myers RM. Candidate-gene approaches for studying complex genetic traits: practical considerations. Nature Rev Genet. 33,1–7 (2002).
   Google Scholar
• Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet. 11,241–247 (1995).
   PubMed Web of Science ®Google Scholar
• Rish NJ, Merikangas K. The future of genetic studies of complex diseases. Science 273,1516–1517 (1996).
   PubMedGoogle Scholar
• Long AD, Langley CH. The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. Genome Res. 9, 720–731 (1999).
   PubMed Web of Science ®Google Scholar
• Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nature Genet. 22, 139–144 (1999).
   PubMed Web of Science ®Google Scholar
• Sachidanandam R, Weissman D, Schmidt SC et al A map of the human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409,928–933 (2001).
   Google Scholar
• Daly MJ, Rioux JD, Schaffner SF et al. High-resolution haplotype structure in the human genome. Nature Genet. 29, 229–232 (2001).
   PubMed Web of Science ®Google Scholar
• Johnson GCL, Esposito L, Barratt BJ et al Haplotype tagging for the identification of common disease genes. Nature Genet. 29, 233–237 (2001).
   PubMed Web of Science ®Google Scholar
• Patil N, Berno AJ, Hinds DA et al Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294, 1719–1722 (2001).
   PubMed Web of Science ®Google Scholar
• Gabriel SB, Schaffner SF, Nguyen H et al. The structure of haplotype blocks in the human genome. Science 296,2225-2229 (2002). Suggests that the human genome can be parsed objectively into haplotype blocks.
   Google Scholar
• Cargill M, Altshuler D, Ireland J et al Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 22,231–238 (1999).
   PubMed Web of Science ®Google Scholar
• Chasman NG, Adams RM. Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. I Mol Biol. 307, 683–706 (2001).
   Google Scholar
• Dahlman I, Eaves IA, Kosoy R et al Parameters for reliable results in genetic association studies in common disease. Nature Genet. 30, 149–150 (2002).
   PubMed Web of Science ®Google Scholar
• Eaves IA, Merriman RT, Barber RA et al The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes. Nature Genet 25, 320–323 (2000).
   PubMedGoogle Scholar
• Glazier AM, Nadeau JH, Altman TJ. Finding genes that underlie complex traits. Science 298, 2345–2349 (2002).
   Google Scholar
• Baylin SB, Esteller M, Rountree et al Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer. Hum. Mot Genet 10, 687–692 (2001).
   PubMed Web of Science ®Google Scholar
• Chen J, Giovannucci E, Kelsey K et al A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res. 56(21), 4862–4864 (1996).
   Google Scholar
• Ma J, Stampfer MJ, Christensen B et al A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyteine and colorectal cancer risk. Cancer Epidemiol Biomarkers Prey. 8, 825–829 (1999).
   PubMed Web of Science ®Google Scholar
• Shannon B, Gnanasampanthan S, Beilby J, Iacopetta B. A polymorphism in the mehylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability. Gut 50, 520–524 (2002).
   PubMed Web of Science ®Google Scholar
• Keku T, Millikan R, Worley K et al 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and Whites. Cancer Epidemiol Biomarkers Prey 11, 1611–1621 (2002).
   PubMed Web of Science ®Google Scholar
• Hardcastle J, Chamberlain J, Robinson MH et al Randomised controlled trial of fecal-occult-blood screening for colorectal cancer. Lancet 348, 1472–1477 (1996).
   PubMed Web of Science ®Google Scholar
• Kronborg O, Fenger C, Olsen J, Jorgensen O, Sondergaard O. Randomised study of screening for colorectal cancer with fecal-occult-blood test. Lancet 348, 1467–1471 (1996).
   Google Scholar
• UK Flexible Sigmoidoscopy Screening Trial Investigators. Single flexible sigmoidoscopy screening to prevent colorectal cancer, baseline findings of a UK multicentre randomised trial. Lancet 359(9314), 1291–1300 (2002). Ongoing preventive trial in the general population.
   Google Scholar
• Zhou XL, Eriksson U, Werelius B, Kressner U, Sun XF, Lindblom A. Definition of candidate low-risk alleles in a Swedish population. Int. J. Cancer (2004) (In Press).
   Google Scholar
• Tannergard P, Lipford JR, Kolodner R, Frödin J E, Nordenskjöld M, Lindblom A. Mutation screening in the hWILH1 gene in Swedish HNPCC families. Cancer Res. 55, 6092–6096 (1995).
   Google Scholar
• Liu T, Tannergard P, Hackman P et al Missense mutations in hWILH1 associated with colorectal cancer. Hum. Genet 105, 437–441 (1999).
   Google Scholar
• Liu T, Stathopoulos P, Lindblom P et al. MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal susceptibility. hiuj Cancer34, 1981 (1998).
   Google Scholar
• Liu T, Chen J, Salahshor S, Kuismannen S et al. Familial endometrial and familial endometrial and colorectal cancer: a separate genetic entity not associated with a defective mismatch repair. J. Med. Genet 38, E29 (2001).
   Google Scholar
• Salahshor S, Hou H, Diep CB et al. A germline E-cadherin mutation in a family with familial gastric and colorectal cancer. bit. j Mot Med. 8, 439–443 (2001). Affiliations
   Google Scholar