Chromosomal instability

Current Opinion in Oncology

Volumn 16, Issue 1, 2004, Pages 25-31

  Gollin, Susanne M ^a,b  

^a UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Aneuploidy; Chromosomal instability; Chromosome segregation; DNA repair; Mitotic spindle; Telomere

Indexed keywords

DNA;

CANCER CELL; CANCER DIAGNOSIS; CANCER GENETICS; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CELL CYCLE; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME SEGREGATION; CROSS LINKING; CYTOSKELETON; DNA DAMAGE; DNA REPLICATION; GENE AMPLIFICATION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RISK; HAPLOTYPE; HETEROZYGOSITY; HUMAN; KARYOTYPE; MALIGNANT TRANSFORMATION; MEDICAL ASSESSMENT; MITOSIS; NONHUMAN; PRIORITY JOURNAL; PROGNOSIS; REVIEW; STRUCTURAL CHROMOSOME ABERRATION; TELOMERE; WART VIRUS; CELL TRANSFORMATION; DNA REPAIR; GENETICS; NEOPLASM; PHYSIOLOGY;

CELL TRANSFORMATION, NEOPLASTIC; CHROMOSOMAL INSTABILITY; DNA DAMAGE; DNA REPAIR; HUMANS; NEOPLASMS; TELOMERE;

EID: 2442551051     PISSN: 10408746     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001622-200401000-00006     Document Type: Review

References (55)

1. Hanahan D, Weinberg RA: The hallmarks of cancer. Cell 2000, 100:57-70.
2. Albertson DG, Collins C, McCormick F, et al.: Chromosome aberrations in solid tumors. Nat Genet 2003, 34:369-376. This outstanding review article discusses the current state of Knowledge regarding chromosomal aberrations in cancer; methods for identifying chromosomal alterations; application of the alterations in diagnosis, prognosis, determination of the pathways altered by chromosomal aberrations; and the usefulness of chromosomal aberrations in identification of therapeutic targets in cancer cells. It is highly recommended.
3. Boveri T: The Origin of Malignant Tumors (translated by Marcella Boveri). Baltimore: Williams & Wilkins; 1929.
4. Zhou H, Kuang J, Zhong L, et al.: Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation. Nat Genet 1998, 20:189-193.
5. Pihan GA, Doxsey SJ: The mitotic machinery as a source of genetic instability in cancer. Semin Cancer Biol 1999, 9:289-302.
6. Saunders WS, Shuster M, Huang X, et al.: Chromosomal instability and cytoskeletal defects in oral cancer cells. Proc Natl Acad Sci U S A 2000, 97:303-308.
7. Lingle WL, Barrett SL, Negron VC, et al.: Centrosome amplification drives chromosomal instability in breast tumor development. Proc Natl Acad Sci U S A 2002, 99:1978-1983. An investigation of the relationship between centrosome amplification, aneuploidy, chromosomal instability, TP53 mutations, and tissue differentiation in breast carcinomas.
8. Feldser DM, Hackett JA, Greider CW: Telomere dysfunction and the initiation of genome instability. Nat Rev Cancer 2003, 3:623-627. This thought-provoking and well-written opinion piece, supported by strong scientific evidence, attributes chromosomal instability to telomere dysfunction.
9. Maser RS, DePinho RA: Take care of your chromosomes lest cancer take care of you. Cancer Cell 2003, 3:4-6. This interesting brief preview piece describes the role of DNA repair defects and checkpoint failures in carcinogenesis.
10. McClintock B: The fusion of broken ends of sister half-chromatids following chromatid breakage at meiotic anaphases. Missouri Agricultural Exp Station Res Bull 1938, 290:1-48.
11. McClintock B: Chromosome organization and genic expression. Cold Spring Harbor Symp Quant Biol 1951, 16:13-47.
12. McClintock B: Spontaneous alterations in chromosome size and form in Zea mays. Cold Spring Harbor Symp Quant Biol 1941, 9:72-81.
13. Shuster MI, Han L, Le Beau MM, et al.: A consistent pattern of RIN1 rearrangements in oral squamous cell carcinoma cell lines supports a breakage-fusion-bridge cycle model for 11q13 amplification. Genes Chromosomes Cancer 2000, 28:153-163.
14. Huang X, Gollin SM, Raja S, Godfrey TE: High-resolution mapping of the 11q13 amplicon and identification of a gene, TAOS1, that is amplified and overexpressed in oral cancer cells. Proc Natl Acad Sci U S A 2002, 99:11369-11374. This is the first report describing the fine physical mapping of amplified human chromosomal band 11q13 and the expression of TAOS1, a new gene in the amplicon.
15. Stenoien DL, Sen S, Mancini MA, et al.: Dynamic association of a tumor amplified kinase, Aurora-A, with the centrosome and mitotic spindle. Cell Motil Cytoskel 2003, 55:134-146. A carefully performed live cell imaging and fluorescence recovery after photo-bleaching study of the cellular dynamics of the Aurora A kinase and its interactions with the centrosomes and mitotic spindle throughout the cell cycle. The behavior of other centrosomal proteins is also discussed.
16. Ewart-Toland A, Briassouli P, deKoning JP, et al.: Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Nat Genet 2003, 34:403-412.
17. Anand S, Penrhyn-Lowe S, Venkitaraman AR: AURORA-A amplification over-rides the mitotic spindle assembly checkpoint, inducing resistance to Taxol. Cancer Cell 2003, 3:51-62. These investigators show that Aurora A amplification is an alternative mechanism to spindle checkpoint dysregulation in cancer cells. This important translational finding predicts that such tumors will have a poor response to Taxol and other chemotherapy drugs that target the spindle checkpoint.
18. Musio A, Montagna C, Zambroni D, et al.: Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. Cancer Res 2003, 63:2855-2863.
19. Pihan GA, Wallace J, Zhou Y, et al.: Centrosome abnormalities and chromosomal instability occur together in pre-invasive carcinomas. Cancer Res 2003, 63:1398-1404. An elegant study of centrosome alterations in preinvasive lesions in several different tissues correlating these findings with spindle defects, chromosomal instability, and progression to cancer.
20. Shiloh Y: ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer 2003, 3:155-168. A superb review article describes ATM, the protein at the apex of the DN A damage response, its critical roles in the cell, and its interaction with the other components of the DNA damage response as well as their roles in DNA repair, cancer predisposition, and carcinogenesis and is highly recommended.
21. Zhou BB, Elledge SJ: The DNA damage response: putting checkpoints in perspective. Nature 2000, 408:433-439.
22. Khanna KK, Jackson SP: DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 2001, 27:247-254.
23. Baskaran R, Wood LD, Whitaker LL, et al.: Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. Nature 1997, 387:516-519.
24. Casper AM, Nghiem P, Arlt MF, et al.: ATR regulates fragile site stability. Cell 2002, 111:779-789. This elegant study is the first to report that the replication kinase ATR is important for maintaining the stability of chromosomal fragile sites. The investigators propose that fragile sites are the location of stalled replication forks that escape the check-point involving ATR.
25. Coquelle A, Pipiras E, Toledo F. et al.: Expression of fragile sites triggers intrachromosomal mammalian gene amplification and sets boundaries to early amplicons. Cell 1997, 89:215-225.
26. Maya R, Balass M, Kim ST, et al.: ATM-dependent phosphorylation of Mdm2 on serine 395: role in p53 activation by DNA damage. Genes Dev 2001; 15:1067-1077.
27. Callen E, Samper E, Ramirez MJ, et al.: Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia. Hum Mol Genet 2002, 11:439-444.
28. Kishi S, Lu KP: A critical role for Pin2/TRF1 in ATM-dependent regulation. J Biol Chem 2002, 277:7420-7429.
29. Vaziri C, Saxena S, Jeon Y, et al.: A p53-dependent checkpoint pathway prevents rereplication. Mol Cell 2003, 11:997-1008. This study examines the mechanism by which rereplication is prevented in mammalian cells and how this process can be defective in tumor cells, leading to chromosomal instability.
30. Taniguchi T, Garcia-Higuera I, Xu B, et al. Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002, 109:459-472.
31. D'Andrea AD, Grompe M: The Fanconi anaemia/BRCA pathway. Nat Rev Cancer 2003, 3:23-34. This excellent review article discusses Fanconi anemia, the rare hereditary chromosome breakage and cancer susceptibility syndrome and describes the functions of the seven Fanconi anemia genes in the DNA damage response and their relationship to chromosomal instability and cancer.
32. Knudson AG: Cancer genetics. Am J Med Genet 2002, 111:96-102.
33. Narod SA: Modifiers of risk of hereditary breast and ovarian cancer. Nat Rev Cancer 2002, 2:113-123.
34. Olopade OI, Pichert G: Cancer genetics in oncology practice. Ann Oncol 2001, 12:895-908.
35. van der Heijden MS, Yeo CJ, Hruban RH, et al.: Fanconi anemia gene mutations in young-onset pancreatic cancer. Cancer Res 2003, 63:2585-2588.
36. Li FP, Fraumeni JR, Mulvihill JJ, et al.: A cancer family syndrome in twenty-four kindreds. Cancer Res 1988, 48:5358-5362.
37. Malkin D, Li FP, Strong LC, et al.: Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990, 250:1233-1238.
38. Bell DW, Varley JM, Szydlo TE, et al.: Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999, 286:2528-2531.
39. Becker-Catania SG, Gatti RA: Ataxia-telangiectasia. Adv Exp Med Biol 2001, 495:191-198.
40. Spring K, Ahangari F, Scott SP, et al.: Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Nat Genet 2002,32:185-190. This article is the first to demonstrate increased cancer susceptibility in an ATM mouse model and explains the apparent paradox in the literature regarding whether ATM mutation carriers have an increased susceptibility to cancer. Carriers with dominant negative missense mutations have an increased risk, whereas others do not.
41. Stewart GS, Maser RS, Stankovic T, et al.: The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999, 99:577-587.
42. D'Andrea AD: The Fanconi road to cancer. Genes Dev 2003, 17:1933-1936.
43. Rosenberg PS, Greene MH, Alter BP: Cancer incidence in persons with Fanconi anemia. Blood 2003, 101:822-826.
44. Kuhn EM: Localization by Q-banding of mitotic chiasmata in cases of Bloom's syndrome. Chromosoma 1976, 57:1-11.
45. Heppner Goss K, Risinger MA, Kordich JJ, et al.: Enhanced tumor formation in mice heterozygous for Blm mutation. Science 2002, 297:2051-2053.
46. Bassing CH, Suh H, Ferguson DO, et al.: Histone H2AX: A dosage-dependent suppressor of oncogenic translocations and tumors. Cell 2003, 114: 359-370. These investigators used gene targeting in mice to discover that haploinsufficiency for H2AX in mice caused genomic instability in normal cells and tumors on a p53-deficient background.
47. Celeste A, Difilippantonio S, Difilippantonio MJ, et al.: H2AX haploinsufficiency modifies genomic stability and tumor susceptibility. Cell 2003, 114:371-383. These investigators used a mouse model system to show that haploinsufficiency for histone H2AX compromised genomic integrity and enhances cancer susceptibility in the absence of p53.
48. Smith L, Liu SJ, Goodrich L, et al.: Duplication of ATR inhibits MyoD, induces aneuploidy and eliminates radiation-induced G1 arrest. Nat Genet 1998, 19:39-46.
49. O'Hagan RC, Chang S, Maser RS, et al.: Telomere dysfunction provokes regional amplification and deletion in cancer genomes. Cancer Cell 2002, 2:149-155. Telomere dysfunction results in breakage-fusion-bridge cycles and epithelial carcinogenesis in the mouse, leading to amplifications and deletions of regions syntenic to those altered in human tumors.
50. Stewart SA, Hahn WC, O'Connor BF, et al.: Telomerase contributes to tumorigenesis by a telomere length-independent mechanism. Proc Natl Acad Sci U S A 2002, 99:12606-12611.
51. Nowak MA, Komarova NL, Sengupta A, et al.: The role of chromosomal instability in tumor initiation. Proc Natl Acad Sci U S A 2002, 99:16226-16231. These investigators develop a mathematical framework for studying the early effects of chromosomal instability on the evolution of cancer.
52. Rajagopalan H, Nowak MA, Vogelstein B, et al.: The significance of unstable chromosomes in colorectal cancer. Nat Rev Cancer 2003, 3:695-701. This opinion piece discusses the experimental and theoretical evidence of the initiation of chromosomal instability in early colorectal tumors and the role that this instability plays in tumorigenesis.
53. Veldman T, Liu X, Yuan H, et al.: Human papillomavirus E6 and Myc proteins associate in vivo and bind to and cooperatively activate the telomerase reverse transcriptase promoter. Proc Natl Acad Sci U S A 2003, 100:8211-8216.
54. Duensing S, Münger K: Human papillomaviruses and centrosome duplication errors: modeling the origins of genomic instability. Oncogene 2002, 21:6241-6248. This excellent review discusses the current model by which high-risk human papillomaviruses take over the cellular DNA synthesis apparatus to ensure viral replication and in the process, leading to chromosomal instability by inducing centrosome replication errors.
55. Duensing S, Münger K: The human papillomavirus type 16 E6 and E7 oncoproteins independently induce numerical and structural chromosome instability. Cancer Res 2002, 62:7075-7082. This article provides a thorough, systematic examination of the roles of HPV-16 E6 and E7 proteins in chromosomal instability.