Genomic instability — an evolving hallmark of cancer (original) (raw)

• Von Hansemann, D. Ueber asymmetrische Zellteilung in Epithelkrebsen und deren biologische Bedeutung. Virchows Arch. Patholog. Anat. 119, 299–326 (1890) (in German).
  Article Google Scholar
• Boveri, T. in Zur frage der enstehung maligner tumoren (Gustav Fischer Verlag, Jena, 1914) (in German).
  Google Scholar
• Winge, O. Zytologische untersuchungen uber die natur maligner tumoren. II. Teerkarzinome bei mausen. Z. Zellforsch. Mikrosk. Anat. 10, 683–735 (1930) (in German).
  Article Google Scholar
• Nowell, P. C. The clonal evolution of tumor cell populations. Science 194, 23–28 (1976). Discussion of the presence of genomic instability in tumours and its role in cancer progression.
  Article CAS PubMed Google Scholar
• Lengauer, C., Kinzler, K. W. & Vogelstein, B. Genetic instability in colorectal cancers. Nature 386, 623–627, 1997. Evidence for the presence of genomic instability in cancers.
  Article CAS PubMed Google Scholar
• Fishel, R. et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75, 1027–1038 (1993). Provides evidence that mutations in DNA repair genes underlie genomic instability in hereditary cancers.
  Article CAS PubMed Google Scholar
• Leach, F. S. et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75, 1215–1225 (1993).
  Article CAS PubMed Google Scholar
• Al-Tassan, N. et al. Inherited variants of MYH associated with somatic G:C–T:A mutations in colorectal tumors. Nature Genet. 30, 227–232 (2002).
  Article CAS PubMed Google Scholar
• Kennedy, R. D. & D'Andrea, A. D. DNA repair pathways in clinical practice: lessons from pediatric cancer susceptibility syndromes. J. Clin. Oncol. 24, 3799–3808 (2006).
  Article CAS PubMed Google Scholar
• Ripperger, T., Gadzicki, D., Meindl, A. & Schlegelberger, B. Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur. J. Hum. Genet. 17, 722–731 (2009).
  Article CAS PubMed Google Scholar
• Bachrati, C. Z. & Hickson, I. D. RecQ helicases: suppressors of tumorigenesis and premature aging. Biochem. J. 374, 577–606 (2003).
  CAS PubMed PubMed Central Google Scholar
• Cleaver, J. E. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nature Rev. Cancer 5, 564–573 (2005).
  Article CAS Google Scholar
• Loeb, L. A. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res. 51, 3075–3079 (1991). A description of the mutator hypothesis.
  CAS PubMed Google Scholar
• Kinzler, K. W. & Vogelstein, B. Cancer-susceptibility genes. Gatekeepers and caretakers. Nature 386, 761–763 (1997).
  Article CAS PubMed Google Scholar
• Rajagopalan, H. & Lengauer, C. Aneuploidy and cancer. Nature 432, 338–341 (2004).
  Article CAS PubMed Google Scholar
• Cahill, D. P. et al. Mutations of mitotic checkpoint genes in human cancers. Nature 392, 300–303 (1998).
  Article CAS PubMed Google Scholar
• Cahill, D. P. et al. Characterization of MAD2B and other mitotic spindle checkpoint genes. Genomics 58, 181–187 (1999). Shows that there is a low frequency of mutations in mitotic checkpoint genes in human cancers.
  Article CAS PubMed Google Scholar
• Wang, Z. et al. Three classes of genes mutated in colorectal cancers with chromosomal instability. Cancer Res. 64, 2998–3001 (2004).
  Article CAS PubMed Google Scholar
• Halazonetis, T. D., Gorgoulis, V. G. & Bartek, J. An oncogene-induced DNA damage model for cancer development. Science 319, 1352–1355 (2008). Description of the oncogene-induced DNA replication stress model.
  Article CAS PubMed Google Scholar
• Gorgoulis, V. G. et al. Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions. Nature 434, 907–913 (2005).
  Article CAS PubMed Google Scholar
• Bartkova, J. et al. DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis. Nature 434, 864–870 (2005). References 20 and 21 analyse human precancerous lesions, providing evidence in support of the oncogene-induced DNA replication stress model.
  Article CAS PubMed Google Scholar
• Bartkova, J. et al. Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints. Nature 444, 633–637 (2006).
  Article CAS PubMed Google Scholar
• Di Micco, R. et al. Oncogene-induced senescence is a DNA damage response triggered by DNA hyper-replication. Nature 444, 638–642 (2006).
  Article CAS PubMed Google Scholar
• Sjoblom, T. et al. The consensus coding sequences of human breast and colorectal cancers. Science 314, 268–274 (2006).
  Article PubMed Google Scholar
• Wood, L. D. et al. The genomic landscapes of human breast and colorectal cancers. Science 318, 1108–1113 (2007).
  Article CAS PubMed Google Scholar
• Jones, S. et al. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321, 1801–1806 (2008).
  Article CAS PubMed PubMed Central Google Scholar
• Parsons, D. W. et al. An integrated genomic analysis of human glioblastoma multiforme. Science 321, 1807–1812 (2008).
  Article CAS PubMed PubMed Central Google Scholar
• Cancer Genome Atlas Research Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455, 1061–1068 (2008).
• Ding, L. et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature 455, 1069–1075 (2008). References 24–29 are high-throughput sequencing studies of human cancers.
  Article CAS PubMed PubMed Central Google Scholar
• Parmigiani, G. et al. Design and analysis issues in genome-wide somatic mutation studies of cancer. Genomics 93, 17–21 (2009).
  Article CAS PubMed Google Scholar
• Lee, W., Yue, P. & Zhang, Z. Analytical methods for inferring functional effects of single base pair substitutions in human cancers. Hum. Genet. 126, 481–498 (2009).
  Article PubMed PubMed Central Google Scholar
• Esteller, M. Epigenetics in cancer. N. Engl. J. Med. 358, 1148–1159 (2008).
  Article CAS PubMed Google Scholar
• Driscoll, M. Haploinsufficiency of DNA damage response genes and their potential influence in human disorders. Curr. Genomics 9, 137–146 (2008).
  Article Google Scholar
• Bodmer, W. Genetic instability is not a requirement for tumor development. Cancer Res. 68, 3558–3560 (2008).
  Article CAS PubMed PubMed Central 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).
  Article CAS PubMed Google Scholar
• Kuerbitz, S. J., Plunkett, B. S., Walsh, W. V. & Kastan, M. B. Wild-type p53 is a cell cycle checkpoint determinant following irradiation. Proc. Natl Acad. Sci. USA 89, 7491–7495 (1992). Evidence that p53 is a DNA damage response protein.
  Article CAS PubMed PubMed Central Google Scholar
• Kang, J. et al. Functional interaction of H2AX, NBS1, and p53 in ATM-dependent DNA damage responses and tumor suppression. Mol. Cell. Biol. 25, 661–670 (2005).
  Article CAS PubMed PubMed Central Google Scholar
• Bunz, F. et al. Targeted inactivation of p53 in human cells does not result in aneuploidy. Cancer Res. 62, 1129–1133 (2002).
  CAS PubMed Google Scholar
• Denko, N. C., Giaccia, A. J., Stringer, J. R. & Stambrook, P. J. The human Ha-ras oncogene induces genomic instability in murine fibroblasts within one cell cycle. Proc. Natl Acad. Sci. USA 91, 5124–5128 (1994). Evidence that oncogenes induce CIN.
  Article CAS PubMed PubMed Central Google Scholar
• Mai, S., Fluri, M., Siwarski, D. & Huppi, K. Genomic instability in MycER-activated Rat1A-MycER cells. Chromosome Res. 4, 365–371 (1996).
  Article CAS PubMed Google Scholar
• Felsher, D. W. & Bishop, J. M. Transient excess of MYC activity can elicit genomic instability and tumorigenesis. Proc. Natl Acad. Sci. USA 96, 3940–3944 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Spruck, C. H., Won, K. A. & Reed, S. I. Deregulated cyclin E induces chromosome instability. Nature 401, 297–300 (1999).
  Article CAS PubMed Google Scholar
• Berkovich, E. & Ginsberg, D. ATM is a target for positive regulation by E2F-1. Oncogene 22, 161–167 (2003).
  Article CAS PubMed Google Scholar
• Woo, R. A. & Poon, R. Y. Activated oncogenes promote and cooperate with chromosomal instability for neoplastic transformation. Genes Dev. 18, 1317–1330 (2004).
  Article CAS PubMed PubMed Central Google Scholar
• Lengronne, A. & Schwob, E. The yeast CDK inhibitor Sic1 prevents genomic instability by promoting replication origin licensing in late G1 . Mol. Cell 9, 1067–1078 (2002).
  Article CAS PubMed Google Scholar
• Tanaka, S. & Diffley, J. F. Deregulated G1-cyclin expression induces genomic instability by preventing efficient pre-RC formation. Genes Dev. 16, 2639–2649 (2002).
  Article CAS PubMed PubMed Central Google Scholar
• Durkin, S. G. & Glover, T. W. Chromosome fragile sites. Annu. Rev. Genet. 41, 169–192 (2007).
  Article CAS PubMed Google Scholar
• Tsantoulis, P. K. et al. Oncogene-induced replication stress preferentially targets common fragile sites in preneoplastic lesions. A genome-wide study. Oncogene 27, 3256–3264 (2008).
  Article CAS PubMed Google Scholar
• Stambolic, V. et al. Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 95, 29–39 (1998).
  Article CAS PubMed Google Scholar
• Serrano, M., Hannon, G. J. & Beach, D. A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 366, 704–707 (1993).
  Article CAS PubMed Google Scholar
• Zhang, Y., Xiong, Y. & Yarbrough, W. G. ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 92, 725–734 (1998).
  Article CAS PubMed Google Scholar
• Momand, J., Zambetti, G. P., Olson, D. C., George, D. & Levine, A. J. The mdm-2 oncogene product forms a complex with the p53 protein and inhibits p53-mediated transactivation. Cell 69, 1237–1245 (1992).
  Article CAS PubMed Google Scholar
• Parant, J. et al. Rescue of embryonic lethality in _Mdm4_-null mice by loss of Trp53 suggests a nonoverlapping pathway with MDM2 to regulate p53. Nature Genet. 29, 92–95 (2001).
  Article CAS PubMed Google Scholar
• Quelle, D. E., Zindy, F., Ashmun, R. A. & Sherr, C. J. Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell 83, 993–1000 (1995). Identification of p14ARF as the second protein product of CDKN2A.
  Article CAS PubMed Google Scholar
• Matsushime, H. et al. Identification and properties of an atypical catalytic subunit (p34PSK-J3/cdk4) for mammalian D type G1 cyclins. Cell 71, 323–334 (1992).
  Article CAS PubMed Google Scholar
• Greenman, C. et al. Patterns of somatic mutation in human cancer genomes. Nature 446, 153–158 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Hanahan, D. & Weinberg, R. A. The hallmarks of cancer. Cell 100, 57–70 (2000). Defines the hallmarks of cancer.
  Article CAS PubMed Google Scholar
• Kroemer, G. & Pouyssegur, J. Tumor cell metabolism: cancer's Achilles' heel. Cancer Cell 13, 472–482 (2008).
  Article CAS PubMed Google Scholar
• Luo, J., Solimini, N. L. & Elledge, S. J. Principles of cancer therapy: oncogene and non-oncogene addiction. Cell 136, 823–837 (2009). Refines the hallmarks of cancer.
  Article CAS PubMed PubMed Central Google Scholar
• Feng, Z., Zhang, H., Levine, A. J. & Jin, S. The coordinate regulation of the p53 and mTOR pathways in cells. Proc. Natl Acad. Sci. USA 102, 8204–8209 (2005).
  Article CAS PubMed PubMed Central Google Scholar
• Crighton, D. et al. DRAM, a p53-induced modulator of autophagy, is critical for apoptosis. Cell 126, 121–134 (2006).
  Article CAS PubMed Google Scholar
• Fearon, E. R. & Vogelstein, B. A genetic model for colorectal tumorigenesis. Cell 61, 759–767 (1990).
  Article CAS PubMed Google Scholar
• Artandi, S. E. et al. Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature 406, 641–645 (2000).
  Article CAS PubMed Google Scholar