Abstract
In developed countries, colorectal cancer is the second most common cause of death due to malignancy after lung cancer in males and third most common after lung and breast cancer in females. In the UK this manifests as a death rate due to colorectal cancer of more than 20 000 annually. Understanding the fundamental molecular genetic basis of colorectal carcinogenesis may allow the development of novel treatment approaches and may also lead to the identification of those who are at high risk of developing the disease when intensive screening combined with prophylactic surgery or drug therapy can be undertaken. In addition, colorectal carcinogenesis provides a model system in which to study the molecular events involved in the development of a number of epithelial cancers and may lead to an understanding of genetic predisposition to these common diseases.
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References
Lynch, H.T., Smryk, T.C., Watson, P. et al. (1993) Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology, 104, 1535–49.
Bonelli, L., Martines, H., Conio, M. et al. (1988) Family history of colorectal cancer as a risk factor for benign and malignant tumours of the large bowel. A case control study. Int. J. Cancer, 41, 513–17.
Cannon-Albright, L.A., Solnick, M.H., Bishop, D.T. et al. (1988) Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N. Engl. J. Med., 319, 533–7.
Bodmer, W.F., Bailey, C.J., Bodmer, J. et al. (1987) Localisation of the gene for familial adenomatous polyposis on chromosome 5. Nature, 328, 614–6.
Leppert, M., Dobbs, M., Scambler, P. et al. (1987) The gene for familial polyposis maps to the long arm of chromosome 5. Science, 238, 1411–13.
Kinzler, K.W., Nilbert, M.C., Su, L-K. et al. (1991) Identification of FAP locus genes from chomosome 5q21. Science, 253, 661–4.
Joslyn, L., Carlson, M., Thliveris, A. et al. (1991) Identification of deletion mutations and three new genes at the Familial Polyposis locus. Cell, 66, 601–13.
Groden, J., Thliveris, A., Samowitz, W. et al. (1991) Identification and characterization of the Familial Adenomatous Polyposis Coli gene. Cell, 66, 589–600.
Miyoshi, Y., Ando, H., Nagase, H. et al. (1992) Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc. Natl. Acad. Sci. USA, 89, 4452–6.
Nagase, H., Miyoshi, Y., Horii, A. et al. (1992) Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum. Mutat., 1, 467–73.
Nagase, H. and Nakamura, Y. (1993) Mutations of the APC (adenomatous polyposis coli) gene. Hum. Mutat., 2, 425–34.
Mandl, M., Paffenholz, R., Friedl, W. et al. (1994) Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Hum. Mol. Genet., 3, 181–4.
Smith, K.J., Johnson, K.A., Bryan, T.M. et al. (1993) The APC gene product in normal and tumour cells. Proc. Natl. Acad. Sci. USA, 90, 2846–50.
Rubinfeld, B., Souza, B., Albert, I. et al. (1993) Association of the APC gene product with b-catenin. Science, 262, 1731–4.
Su, L.-K., Vogelstein, B. and Kinzler, K. (1993) Association of the APC tumour suppressor protein with catenins. Science, 262, 1734–7.
Munemitsu, S., Souza, B., Muller, O. et al. (1994) The APC gene product associates with microtubules in vivo and promotes their assembly in vitro. Cancer Res., 54, 3676–81.
Smith, K.J., Levy, D.B., Maupin, P. et al. (1994) Wild-type but not mutant APC associates with microtubule cytoskeleton. Cancer Res., 54, 3672–5.
Moser, A.R., Pitot, H.C. and Dove, W.F. (1990) A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse. Science, 247, 322–4.
Su, L.-K., Kinzler, K.W., Vogelstein, B et al. (1992) Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene. Science, 256, 668–70.
Moser, A.R., Dove, W.F., Roth, K.A., et al. (1992) The Min (Multiple Intestinal Neoplasia) Mutation: its effect on gut epithelial cell differentiation and interaction with a modifier system. J. Cell Biol., 116 (6) 1517–26.
Cottrell, S., Bicknell, D., Kaklamanis, L. et al. (1992) Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet, 340, 626–30.
Olschang, S., Laurent-Puig, P., Groden, J. et al. (1993) Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am. J. Hum. Genet., 52, 273–9.
Groden, J., Gelbert, L., Thliveris, A. et al. (1993) Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Am. J. Hum. Genet., 52, 263–72.
Nagase, H., Miyoshi, Y., Horii, A. et al. (1992) Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res., 52, 4055–7.
Su, L-K., Johnson, K.A., Smith, K.J. et al. (1993). Association between wild-type and mutant APC gene products. Cancer Res. 53, 2728–31.
Paul, P., Letteboer, T., Gelbert, L. et al. (1993) Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. Hum. Mol. Genet. 2, 925–31.
Lynch, H.T., Kimberling, W.J., Albano, W.A. et al. (1985) Hereditary nonpolyposis colorectal cancer (Lynch Syndromes 1 and 2). 1.Clinical description of resource. Cancer, 56, 934–8.
Vasen, H.F.A., Mecklin, J-P., Meera-Khan, P. et al. (1991). The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis. Colon Rectum, 34, 424–25.
Lipkin, N., Blattner, W.E., Fraumeni, J.F. et al. (1983) Tritiated thymidine labelling distribution as a marker for hereditary predisposition to colon cancer. Cancer Res. 43, 1899–904.
Gerdes, H., Gillin, J.S., Zimbalist, E. et al. (1993) Expansion of the epithlial cell proliferative compartment and frequency of adenomatous polyps in the colon correlate with the strength of family history of colorectal cancer. Cancer Res., 53, 279–82.
Jenson, O.M., Bolander, A.M., Sigtryggsson, P. et al. (1980) Large-bowel cancer in married couples in Sweden. A follow-up study. Lancet, 1, 1161–3.
Fishel, R., Lescoe, M.K., Rao, M.R.S. et al. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75, 1027–38.
Leach, F.S., Nicolaides, N.C., Papadopolous, N. et al. (1993) Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell, 75, 1215–25.
Bronner, C.E., Baker, S.M., Morrison, P.T. et al. (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature, 368, 258–61.
Papadopolous, N., Nicolaides, N.C., Wei, Y-F. et al. (1994) Mutation of a mutL homolog in hereditary colon cancer. Science, 263, 1625–9.
Nicolaides, N.C., Papadopoulos, N., Wei, Y.F., et al. (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature, 371, 75–80.
Peltomaki, L., Aaltonen, L.A., Sistonen, P. et al. (1993) Genetic mapping of a locus predisposing to human colorectal cancer. Science, 260, 810–12.
Lindblom, A., Tannergard, P., Werelius, B. and Nordenskjold, M. (1993) Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nature Genet., 5, 279–82.
Ionov, Y., Peinado, M.A., Malkhosyan, S. et al. (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature, 363, 558–61.
Aaltonen, L.A., Peltomaki, P., Leach, F.S. et al. (1993) Clues to the pathogenesis of familial colorectal cancer. Science, 260, 812–16.
Thibodeau, S.N., Bren, G. and Schaid, D. (1993) Microsatellite instability in cancer of the proximal colon. Science, 260, 816–19.
Grilley, M., Holmes, J., Yashar, B. and Modrich, P. (1990) Mechanisms of DNA-mismatch correction. Mutat. Res., 26, 253–67.
Proila, T.A., Christie, D-M. and Liskay, R.M. (1994) Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of bacterial MutL gene. Mol. Cell. Biol., 14, 407–15.
Proila, T.A., Pang, Q., Alani, E. et al. (1994) MLH1, PMS1 and MSH2 interactions during the initiation of DNA mismatch repair in yeast. Nature, 365, 1091–3.
Strand, M., Proila, T.A., Liskay, R.M. et al. (1993) Destabilization of tracts of simple repetitive DNA in yeasts by mutations affecting DNA mismatch repair. Nature, 365, 274–6.
Liu, B., Parsons, R.E., Hamilton, S.R. et al. (1994) hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res., 54, 4590–4.
Parsons, R.E., Li, G.-M., Longley, M.J. et al. (1993) Hypermutability and mismatch repair deficiency in RER+ tumour cells. Cell, 75, 1227–36.
Peltomaki, P., Lothe, R.A., Aaltonen, L.A. et al. (1993) Microsatellite instability is associated with tumours that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res. 53, 5853–5.
Aaltonen, L.A., Peltomaki, P. and Mecklin, J.-P. (1994) Replication errors in benign and malignant tumours from hereditary nonpolyposis colorectal cancer patients. Cancer Res., 54, 1645–8.
Lothe, R.A., Peltomaki, P., Meling, G.I. et al. (1993) Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res., 53, 5849–52.
Carder, P., Wyllie, A.H., Purdie, C.A. et al. (1993) Stabilised p53 facilitates aneuploid clonal divergence in colorectal cancer. Oncogene, 8, 1397–401.
Risinger J.I., Berchuck, A., Kohler, M.F. et al. (1993) Genetic instability of microsatellites in endometrial carcinoma. Cancer Res., 53, 5100–3.
Horii, A., Han, H.-J., Shimada, M. et al. (1994) Frequent replication errors at microsatellite loci in tumrs of patients with multiple primary cancers. Cancer Res., 54, 3373–82.
Wiebauer, K.M. and Jiricny, J. (1990) Mismatch-specific thymine DNA glysosylase and DNA polymerase B mediate the correction of G.T mispairs in nuclear extracts from human cells. Proc. Natl. Acad. Sci. USA, 87, 5842–5.
Shibata, D., Peinado, M.A., Ionov, Y. et al. (1994) Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nature Genet., 6, 273–81.
Bhattacharyya, N.P., Skandalis, A., Groden, J. and Meuth, M. (1994) Mutator phenotypes in human colorectal carcinoma cell lines. Proc. Natl Acad. Sci. USA, 91, 6319–23.
Vogelstein, B., Fearon, E.R., Hamilton, S.R. et al. (1988) Genetic alterations during colorectal tumour development. N. Engl. J. Med., 319, 525–32.
Fearon, E.R., Cho, K.R., Nigro, J.M. et al. (1990) Identification of a chromosome 18q gene that is altered in colorectal cancers. Science, 247, 49–56.
Tanaka, K., Oshimura, M., Kikuchi, R. et al. (1991) Suppression of tumourigenicity in human colon carcinoma cells by introduction of normal chromosome 5 or 18. Nature, 349, 340–2.
Lynch, H.T., Schuelke, G.S., Kimberling, W.J. et al. (1985) Hereditary non-polyposis colorectal cancer (Lynch Syndromes 1 and 2): 2. Biomarker studies. Cancer, 56, 939–51.
Peltomaki, P., Sistonen, P., Mecklin, J.-P., et al. (1991) Evidence supporting exclusion of the DCC gene and a portion of chromosome 18q as the locus for susceptibility to hereditary nonpolyposis colorectal carcinomas in five kindreds. Cancer Res., 51, 4135–40.
Nigro, J.M., Baker, S.J., Preisinger, A.C. et al. (1989) Mutations in the p53 gene occur in diverse human tumour types. Nature, 342, 705–8.
Bhagirath, T.H., Condie, A., Dunlop, M.G. et al. (1993) Exclusion of constitutional p53 mutations as a cause of genetic susceptibility to colorectal cancer. Br. J. Cancer, 68, 712–14.
Shibata, O., Schaeffer, J., Li, Z.-H. et al. (1993) Genetic heterogeneity of c-K-ras locus in colorectal adenomas but not adenocarcinomas. J. Natl Cancer Inst., 85, 1058–63.
Krontiris, T.G., Devlin, B., Karp, D.D. et al. (1989) An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N. Engl. J. Med., 329, 517–23.
Petersen, G.M., Francomano, C, Kinzler, K. et al. (1993) Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis. Hum. Genet., 91, 307–11.
Maher, E.R., Barton, D.E., Slatter, R. et al. (1993) Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study. J. Med. Genet., 30, 675–8.
Thun, M.J., Namboodiri, M.M. and Heath, C.W. (1991) Aspirin use and reduced risk of fatal colon cancer. N. Engl J. Med., 325, 1593–6.
Giardiello, F.M., Hamilton, S.R., Krush, A.J., et al. (1993) Treatment of colonie and rectal adenomas with sulindac in familial adenomatous polyposis. N. Engl J. Med., 328, 1313–16.
Drummond, J.T., Li, G-M., Longley, M.J. et al. (1995) Isolation of an hMSH2-p160 hetero-dimer that restores DNA mismatch repair to tumor cells. Science, 268, 1909–12.
Palombo, F., Galtiari, P., Laccarino, I. et al. (1995) GTBP, a 160 kilodalton protein essential for mismatch-binding activity in human cells. Science, 268, 1912–15.
Papadopoulos, N., Nicolaides, N.C., Liu, B. et al. (1995) Mutations of GTBP in genetically unstable cells. Science, 268, 1915–17.
Parsons, R., Li, G-M., Longley, M.J. et al. (1995) Mismatch repair deficiency in phenotypically normal human cells. Science, 268, 738–40.
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Farrington, S.M., Dunlop, M.G. (1996). The genetics of familial colon cancer. In: Eeles, R.A., Ponder, B.A.J., Easton, D.F., Horwich, A. (eds) Genetic Predisposition to Cancer. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-4501-3_21
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DOI: https://doi.org/10.1007/978-1-4899-4501-3_21
Publisher Name: Springer, Boston, MA
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