Genomic instability — the engine of tumorigenesis? (original) (raw)

• Lengauer, C., Kinzler, K. W. & Vogelstein, B. Genetic instabilities in human cancers. Nature 396, 643–649 (1998).
  CAS PubMed Google Scholar
• Jones, P. A. & Baylin, S. B. The fundamental role of epigenetic events in cancer. Nature Rev. Genet. 3, 415–428 (2002).
  CAS PubMed Google Scholar
• Hanahan, D. & Weinberg, R. A. The hallmarks of cancer. Cell 100, 57–70 (2000).
  CAS PubMed Google Scholar
• Markowitz, S. DNA repair defects inactivate tumor suppressor genes and induce hereditary and sporadic colon cancers. J. Clin. Oncol. 18, 75S–80S (2000).
  CAS PubMed Google Scholar
• Hoeijmakers, J. H. Genome maintenance mechanisms for preventing cancer. Nature 411, 366–374 (2001).
  CAS PubMed Google Scholar
• Prolla, T. A. et al. Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nature Genet. 18, 276–279 (1998).
  CAS PubMed Google Scholar
• Baker, S. M. et al. Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nature Genet. 13, 336–342 (1996).
  CAS PubMed Google Scholar
• Connor, F. et al. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nature Genet. 17, 423–430 (1997).
  CAS PubMed Google Scholar
• Edelmann, W. et al. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell 91, 467–477 (1997).
  CAS PubMed Google Scholar
• de Vries, A. et al. Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 377, 169–173 (1995).
  CAS PubMed Google Scholar
• Loeb, L. A., Springgate, C. F. & Battula, N. Errors in DNA replication as a basis of malignant changes. Cancer Res. 34, 2311–2321 (1974).
  CAS PubMed Google Scholar
• Nowell, P. C. The clonal evolution of tumor cell populations. Science 194, 23–28 (1976).
  CAS PubMed Google Scholar
• Loeb, L. A. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res. 51, 3075–3079 (1991).
  CAS PubMed Google Scholar
• Loeb, K. R. & Loeb, L. A. Significance of multiple mutations in cancer. Carcinogenesis 21, 379–385 (2000).
  CAS PubMed Google Scholar
• Loeb, L. A., Loeb, K. R. & Anderson, J. P. Multiple mutations and cancer. Proc. Natl Acad. Sci. USA 100, 776–781 (2003).
  CAS PubMed PubMed Central Google Scholar
• Tomlinson, I. & Bodmer, W. Selection, the mutation rate and cancer: ensuring that the tail does not wag the dog. Nature Med. 5, 11–12 (1999).
  CAS PubMed Google Scholar
• Cahill, D. P., Kinzler, K. W., Vogelstein, B. & Lengauer, C. Genetic instability and darwinian selection in tumours. Trends Cell Biol. 9, M57–M60 (1999).
  CAS PubMed Google Scholar
• Breivik, J. & Gaudernack, G. Genomic instability, DNA methylation, and natural selection in colorectal carcinogenesis. Semin. Cancer Biol. 9, 245–254 (1999).
  CAS PubMed Google Scholar
• Nowak, M. A. et al. The role of chromosomal instability in tumor initiation. Proc. Natl Acad. Sci. USA 99, 16226–16231 (2002).
  CAS PubMed PubMed Central Google Scholar
• Boveri, T. The Origin of Malignant Tumors (Williams and Wilkins, Baltimore, Maryland, 1929).
  Google Scholar
• Fearon, E. R. & Vogelstein, B. A genetic model for colorectal tumorigenesis. Cell 61, 759–767 (1990).
  CAS PubMed Google Scholar
• Lijovic, M. & Frauman, A. G. Toward an understanding of the molecular genetics of prostate cancer progression. J. Environ. Pathol. Toxicol. Oncol. 22, 1–15 (2003).
  CAS PubMed Google Scholar
• Morales, C. P., Souza, R. F. & Spechler, S. J. Hallmarks of cancer progression in Barrett's oesophagus. Lancet 360, 1587–1589 (2002).
  PubMed Google Scholar
• Stoler, D. L. et al. The onset and extent of genomic instability in sporadic colorectal tumor progression. Proc. Natl Acad. Sci. USA 96, 15121–15126 (1999).
  CAS PubMed PubMed Central Google Scholar
• de Wind, N., Dekker, M., Berns, A., Radman, M. & te Riele, H. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 82, 321–330 (1995).
  CAS PubMed Google Scholar
• Lynch, H. T. & de la Chapelle, A. Hereditary colorectal cancer. N. Engl. J. Med. 348, 919–932 (2003).
  CAS PubMed Google Scholar
• Sieber, O. M. et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N. Engl. J. Med. 348, 791–799 (2003).
  PubMed Google Scholar
• Halford, S. E. et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am. J. Pathol. 162, 1545–1548 (2003).
  CAS PubMed PubMed Central Google Scholar
• Tomlinson, I. P., Novelli, M. R. & Bodmer, W. F. The mutation rate and cancer. Proc. Natl Acad. Sci. USA 93, 14800–14803 (1996).
  CAS PubMed PubMed Central Google Scholar
• Cahill, D. P. et al. Mutations of mitotic checkpoint genes in human cancers. Nature 392, 300–303 (1998).
  CAS PubMed Google Scholar
• Bardelli, A. et al. Carcinogen-specific induction of genetic instability. Proc. Natl Acad. Sci. USA 98, 5770–5775 (2001).
  CAS PubMed PubMed Central Google Scholar
• Rowan, A. J. et al. APC mutations in sporadic colorectal tumors: A mutational 'hotspot' and interdependence of the 'two hits'. Proc. Natl Acad. Sci. USA 97, 3352–3357 (2000).
  CAS PubMed PubMed Central Google Scholar
• Sieber, O. M. et al. Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. Proc. Natl Acad. Sci. USA 99, 16910–16915 (2002).
  CAS PubMed PubMed Central Google Scholar
• Haigis, K. M., Caya, J. G., Reichelderfer, M. & Dove, W. F. Intestinal adenomas can develop with a stable karyotype and stable microsatellites. Proc. Natl Acad. Sci. USA 99, 8927–8931 (2002).
  CAS PubMed PubMed Central Google Scholar
• Eshleman, J. R. et al. Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer. Oncogene 10, 33–37 (1995).
  CAS PubMed Google Scholar
• Bhattacharyya, N. P., Skandalis, A., Ganesh, A., Groden, J. & Meuth, M. Mutator phenotypes in human colorectal carcinoma cell lines. Proc. Natl Acad. Sci. USA 91, 6319–6323 (1994).
  CAS PubMed PubMed Central Google Scholar
• Tomlinson, I., Sasieni, P. & Bodmer, W. How many mutations in a cancer? Am. J. Pathol. 160, 755–758 (2002).
  PubMed PubMed Central Google Scholar
• Abdel–Rahman, W. M. et al. Spectral karyotyping suggests additional subsets of colorectal cancers characterized by pattern of chromosome rearrangement. Proc. Natl Acad. Sci. USA 98, 2538–2543 (2001).
  PubMed PubMed Central Google Scholar
• Wang, T. L. et al. Prevalence of somatic alterations in the colorectal cancer cell genome. Proc. Natl Acad. Sci. USA 99, 3076–3080 (2002).
  CAS PubMed PubMed Central Google Scholar
• Muleris, M., Dutrillaux, A. M., Olschwang, S., Salmon, R. J. & Dutrillaux, B. Predominance of normal karyotype in colorectal tumors from hereditary non-polyposis colorectal cancer patients. Genes Chromosom. Cancer 14, 223–226 (1995).
  CAS PubMed Google Scholar
• DePinho, R. A. The age of cancer. Nature 408, 248–254 (2000).
  CAS PubMed Google Scholar
• Vogelstein, B., Lane, D. & Levine, A. J. Surfing the p53 network. Nature 408, 307–310 (2000).
  CAS PubMed Google Scholar
• Rubin, H. The role of selection in progressive neoplastic transformation. Adv. Cancer Res. 83, 159–207 (2001).
  CAS PubMed Google Scholar
• Muleris, M. et al. Cytogenetic and molecular approaches of polyploidization in colorectal adenocarcinomas. Cancer Genet. Cytogenet. 44, 107–118 (1990).
  CAS PubMed Google Scholar
• Remvikos, Y., Gerbault–Seureau, M., Magdelenat, H., Prieur, M. & Dutrillaux, B. Proliferative activity of breast cancers increases in the course of genetic evolution as defined by cytogenetic analysis. Breast Cancer Res. Treat. 23, 43–49 (1992).
  CAS PubMed Google Scholar
• Tomlinson, I. P. Mutations in normal breast tissue and breast tumours. Breast Cancer Res. 3, 299–303 (2001).
  CAS PubMed PubMed Central Google Scholar
• Sieber, O. M., Tomlinson, I. P. & Lamlum, H. The adenomatous polyposis coli (APC) tumour suppressor: genetics, function and disease. Mol. Med. Today 6, 462–469 (2000).
  CAS PubMed Google Scholar
• Kaplan, K. B. et al. A role for the adenomatous polyposis coli protein in chromosome segregation. Nature Cell Biol. 3, 429–432 (2001).
  CAS PubMed Google Scholar
• Fodde, R. et al. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nature Cell Biol. 3, 433–438 (2001).
  CAS PubMed Google Scholar
• Beck, N. E. et al. Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas. Gut 41, 235–238 (1997).
  CAS PubMed PubMed Central Google Scholar
• Lindgren, G., Liljegren, A., Jaramillo, E., Rubio, C. & Lindblom, A. Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer. Gut 50, 228–234 (2002).
  CAS PubMed PubMed Central Google Scholar
• Al–Tassan, N. et al. Inherited variants of MYH associated with somatic G:C→A mutations in colorectal tumors. Nature Genet. 30, 227–232 (2002).
  PubMed Google Scholar
• Jones, S. et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations. Hum. Mol. Genet. 11, 2961–2967 (2002).
  CAS PubMed Google Scholar
• Bardi, G. et al. Cytogenetic aberrations in colorectal adenocarcinomas and their correlation with clinicopathologic features. Cancer 71, 306–314 (1993).
  CAS PubMed Google Scholar
• Bardi, G. et al. Cytogenetic analysis of 52 colorectal carcinomas: non-random aberration pattern and correlation with pathologic parameters. Int. J. Cancer 55, 422–428 (1993).
  CAS PubMed Google Scholar
• Bardi, G. et al. Karyotypic characterization of colorectal adenocarcinomas. Genes Chromosom. Cancer 12, 97–109 (1995).
  CAS PubMed Google Scholar
• Bardi, G. et al. Deletion of 1p36 as a primary chromosomal aberration in intestinal tumorigenesis. Cancer Res. 53, 1895–1898 (1993).
  CAS PubMed Google Scholar
• Bomme, L. et al. Clonal karyotypic abnormalities in colorectal adenomas: clues to the early genetic events in the adenoma–carcinoma sequence. Genes Chromosom. Cancer 10, 190–196 (1994).
  CAS PubMed Google Scholar
• Bardi, G. et al. Cytogenetic comparisons of synchronous carcinomas and polyps in patients with colorectal cancer. Br. J. Cancer 76, 765–769 (1997).
  CAS PubMed PubMed Central Google Scholar
• Bomme, L. et al. Cytogenetic analysis of colorectal adenomas: karyotypic comparisons of synchronous tumors. Cancer Genet. Cytogenet. 106, 66–71 (1998).
  CAS PubMed Google Scholar
• van den Ingh, H. F., Griffioen, G. & Cornelisse, C. J. Flow cytometric detection of aneuploidy in colorectal adenomas. Cancer Res. 45, 3392–3397 (1985).
  CAS PubMed Google Scholar
• Weiss, H., Wildner, G. P., Jacobasch, K. H., Heinz, U. & Schaelicke, W. Characterization of human adenomatous polyps of the colorectal bowel by means of DNA distribution patterns. Oncology 42, 33–41 (1985).
  CAS PubMed Google Scholar
• Sciallero, S. et al. Flow cytometric DNA ploidy in colorectal adenomas and family history of colorectal cancer. Cancer 61, 114–120 (1988).
  CAS PubMed Google Scholar
• Ried, T. et al. Comparative genomic hybridization reveals a specific pattern of chromosomal gains and losses during the genesis of colorectal tumors. Genes Chromosom. Cancer 15, 234–245 (1996).
  CAS PubMed Google Scholar
• Woodford–Richens, K. et al. Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Cancer Res. 60, 2477–2482 (2000).
  PubMed Google Scholar
• Tomlinson, I. P., Lambros, M. B. & Roylance, R. R. Loss of heterozygosity analysis: practically and conceptually flawed? Genes Chromosom. Cancer 34, 349–353 (2002).
  PubMed Google Scholar
• Shih, I. M. et al. Evidence that genetic instability occurs at an early stage of colorectal tumorigenesis. Cancer Res. 61, 818–822 (2001).
  CAS PubMed Google Scholar
• Perucho, M. Cancer of the microsatellite mutator phenotype. Biol. Chem. 377, 675–684 (1996).
  CAS PubMed Google Scholar
• Samowitz, W. S. & Slattery, M. L. Transforming growth factor-β receptor type 2 mutations and microsatellite instability in sporadic colorectal adenomas and carcinomas. Am. J. Pathol. 151, 33–35 (1997).
  CAS PubMed PubMed Central Google Scholar
• Sedivy, R. et al. Genetic analysis of multiple synchronous lesions of the colon adenoma–carcinoma sequence. Br. J. Cancer 82, 1276–1282 (2000).
  CAS PubMed PubMed Central Google Scholar
• Yashiro, M. et al. Genetic pathways in the evolution of morphologically distinct colorectal neoplasms. Cancer Res. 61, 2676–2683 (2001).
  CAS PubMed Google Scholar
• Boland, C. R. et al. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 58, 5248–5257 (1998).
  CAS PubMed Google Scholar
• Homfray, T. F. et al. Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours. Hum. Mutat. 11, 114–120 (1998).
  CAS PubMed Google Scholar
• Hawkins, N. J., Tomlinson, I., Meagher, A. & Ward, R. L. Microsatellite-stable diploid carcinoma: a biologically distinct and aggressive subset of sporadic colorectal cancer. Br. J. Cancer 84, 232–236 (2001).
  CAS PubMed PubMed Central Google Scholar
• Humar, B. et al. Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. Hum. Mutat. 19, 518–525 (2002).
  CAS PubMed Google Scholar
• Yabuta, T. et al. E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer. Int. J. Cancer 101, 434–441 (2002).
  CAS PubMed Google Scholar
• Suriano, G. et al. Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. Hum. Mol. Genet. 12, 575–582 (2003).
  CAS PubMed Google Scholar
• Shtil, A. A. Emergence of multidrug resistance in leukemia cells during chemotherapy: mechanisms and prevention. J. Hematother. Stem Cell Res. 11, 231–241 (2002).
  CAS PubMed Google Scholar
• Dalton, W. S. Drug resistance and drug development in multiple myeloma. Semin. Oncol. 29, 21–25 (2002).
  CAS PubMed Google Scholar
• Naito, S., Yokomizo, A. & Koga, H. Mechanisms of drug resistance in chemotherapy for urogenital carcinoma. Int. J. Urol. 6, 427–439 (1999).
  CAS PubMed Google Scholar
• Lamlum, H. 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. Nature Med. 5, 1071–1075 (1999).
  CAS PubMed Google Scholar
• Crabtree, M. et al. Refining the relationship 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 (2003).
  CAS PubMed Google Scholar
• Albuquerque, C. 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. 11, 1549–1560 (2002).
  CAS PubMed Google Scholar
• Toyota, M., Ohe–Toyota, M., Ahuja, N. & Issa, J. P. Distinct genetic profiles in colorectal tumors with or without the CpG island methylator phenotype. Proc. Natl Acad. Sci. USA 97, 710–715 (2000).
  CAS PubMed PubMed Central Google Scholar
• Menigatti, M. et al. Methylation pattern of different regions of the MLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer. Genes Chromosom. Cancer 31, 357–361 (2001).
  CAS PubMed Google Scholar
• Simpson, D. J., Bicknell, J. E., McNicol, A. M., Clayton, R. N. & Farrell, W. E. Hypermethylation of the p16/CDKN2A/MTSI gene and loss of protein expression is associated with nonfunctional pituitary adenomas but not somatotrophinomas. Genes Chromosom. Cancer 24, 328–336 (1999).
  CAS PubMed Google Scholar
• Wheeler, J. M., Loukola, A., Aaltonen, L. A., Mortensen, N. J. & Bodmer, W. F. The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers. J. Med. Genet. 37, 588–592 (2000).
  CAS PubMed PubMed Central Google Scholar
• Spirio, L. N. et al. Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps. Nature Genet. 20, 385–388 (1998).
  CAS PubMed Google Scholar
• Birch, J. M. et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li–Fraumeni syndrome. Oncogene 17, 1061–1068 (1998).
  CAS PubMed Google Scholar