Genomic instability and cancer: Networks involved in response to DNA damage

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 592, Issue 1-2, 2005, Pages 18-28

  Eyfjord, Jorunn Erla ^a,b   Bodvarsdottir, Sigridur Klara ^a,b  

^a UNIVERSITY OF ICELAND   (Iceland)

^b ICELANDIC CANCER SOCIETY   (Iceland)

Author keywords

Cancer; DNA damage; Genomic instability

Indexed keywords

CANCER RESEARCH; CANCER SUSCEPTIBILITY; CELL CYCLE; CHROMOSOME ABERRATION; CONFERENCE PAPER; DNA DAMAGE; DNA REPAIR; FAMILIAL CANCER; GENE MUTATION; GENOMIC INSTABILITY; HUMAN; HUMAN CHROMOSOME; PRIORITY JOURNAL; TELOMERE;

ATAXIA TELANGIECTASIA; BREAST NEOPLASMS; CELL CYCLE PROTEINS; CHROMOSOME MAPPING; DNA DAMAGE; DNA-BINDING PROTEINS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENOMIC INSTABILITY; HUMANS; MODELS, GENETIC; NEOPLASMS; PROTEIN-SERINE-THREONINE KINASES; TELOMERE; TUMOR SUPPRESSOR PROTEINS;

EID: 28244478365     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2005.05.010     Document Type: Conference Paper

References (74)

1. W.L. Lingle, S.L. Barrett, V.C. Negron, A.B. D'Assoro, K. Boeneman, W. Liu, C.M. Whitehead, C. Reynolds, and J.L. Salisbury Centrosome amplification drives chromosomal instability in breast tumor development Proc. Natl. Acad. Sci. U.S.A. 99 2002 1978 1983
2. R.S. Maser, and R.A. DePinho Take care of your chromosomes lest cancer take care of you Cancer Cell 3 2003 4 6
3. D.M. Feldser, J.A. Hackett, and C.W. Greider Telomere dysfunction and the initiation of genome instability Nat. Rev. Cancer 3 2003 623 627
4. K.K. Khanna, and S.P. Jackson DNA double-strand breaks: signaling, repair and the cancer connection Nat. Genet. 27 2001 247 254
5. Y. Shiloh ATM and related protein kinases: safeguarding genome integrity Nat. Rev. Cancer 3 2003 155 168
6. A.N. Tutt, C.T. van Oostrom, G.M. Ross, H. van Steeg, and A. Ashworth Disruption of Brca2 increases the spontaneous mutation rate in vivo: synergism with ionizing radiation EMBO Rep. 3 2002 255 260
7. M. O'Driscoll, A.R. Gennery, J. Seidel, P. Concannon, and P.A. Jeggo An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome DNA Repair (Amst) 3 2004 1227 1235
8. K. Savitsky, A. Bar-Shira, S. Gilad, G. Rotman, Y. Ziv, L. Vanagaite, D.A. Tagle, S. Smith, T. Uziel, and S. Sfez A single ataxia telangiectasia gene with a product similar to PI-3 kinase Science 268 1995 1749 1753
9. J.L. Bernstein, D. Seminara, and A.L. Borresen-Dale Workshop on The Epidemiology of the ATM Gene: Impact on Breast Cancer Risk and Treatment, Present Status and Future Focus, Lillehammer, Norway, 29 June 2002 Breast Cancer Res. 4 2002 249 252
10. C.J. Bakkenist, and M.B. Kastan DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation Nature 421 2003 499 506
11. R. Scully, and D.M. Livingston In search of the tumour-suppressor functions of BRCA1 and BRCA2 Nature 408 2000 429 432
12. P.L. Welcsh, K.N. Owens, and M.C. King Insights into the functions of BRCA1 and BRCA2 Trends Genet. 16 2000 69 74
13. S. Staff, N.N. Nupponen, A. Borg, J.J. Isola, and M.M. Tanner Multiple copies of mutant BRCA1 and BRCA2 alleles in breast tumors from germ-line mutation carriers Genes Chromosomes Cancer 28 2000 432 442
14. D. Ford, D.F. Easton, M. Stratton, S. Narod, D. Goldgar, P. Devilee, D.T. Bishop, B. Weber, G. Lenoir, J. Chang-Claude, H. Sobol, M.D. Teare, J. Struewing, A. Arason, S. Scherneck, J. Peto, T.R. Rebbeck, P. Tonin, S. Neuhausen, R. Barkardottir, J. Eyfjord, H. Lynch, B.A. Ponder, S.A. Gayther, and M. Zelada-Hedman Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium Am. J. Hum. Genet. 62 1998 676 689
15. C.I. Szabo, and M.C. King Population genetics of BRCA1 and BRCA2 Am. J. Hum. Genet. 60 1997 1013 1020
16. K. Yoshikawa, K. Honda, T. Inamoto, H. Shinohara, A. Yamauchi, K. Suga, T. Okuyama, T. Shimada, H. Kodama, S. Noguchi, A.F. Gazdar, Y. Yamaoka, and R. Takahashi Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases Clin. Cancer Res. 5 1999 1249 1261
17. C.A. Wilson, L. Ramos, M.R. Villasenor, K.H. Anders, M.F. Press, K. Clarke, B. Karlan, J.J. Chen, R. Scully, D. Livingston, R.H. Zuch, M.H. Kanter, S. Cohen, F.J. Calzone, and D.J. Slamon Localization of human BRCA1 and its loss in high-grade, non-inherited breast carcinomas Nat. Genet. 21 1999 236 240
18. H. Lambie, A. Miremadi, S.E. Pinder, J.A. Bell, P. Wencyk, E.C. Paish, R.D. Macmillan, and I.O. Ellis Prognostic significance of BRCA1 expression in sporadic breast carcinomas J. Pathol. 200 2003 207 213
19. M.E. Thompson, R.A. Jensen, P.S. Obermiller, D.L. Page, and J.T. Holt Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression Nat. Genet. 9 1995 444 450
20. N. Collins, R. Wooster, and M.R. Stratton Absence of methylation of CpG dinucleotides within the promoter of the breast cancer susceptibility gene BRCA2 in normal tissues and in breast and ovarian cancers Br. J. Cancer 76 1997 1150 1156
21. J.L. Hilton, J.P. Geisler, J.A. Rathe, M.A. Hattermann-Zogg, B. DeYoung, and R.E. Buller Inactivation of BRCA1 and BRCA2 in ovarian cancer J. Natl. Cancer Inst. 94 2002 1396 1406
22. J.T. Bergthorsson, A. Jonasdottir, G. Johannesdottir, A. Arason, V. Egilsson, S. Gayther, A. Borg, S. Hakanson, S. Ingvarsson, and R.B. Barkardottir Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients Hum. Mutat. Suppl. Suppl. 1 1998 S195 S197
23. S. Thorlacius, G. Olafsdottir, L. Tryggvadottir, S. Neuhausen, J.G. Jonasson, S.V. Tavtigian, H. Tulinius, H.M. Ogmundsdottir, and J.E. Eyfjord A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes Nat. Genet. 13 1996 117 119
24. E.K. Mikaelsdottir, S. Valgeirsdottir, J.E. Eyfjord, and T. Rafnar The Icelandic founder mutation BRCA2 999del5: analysis of expression Breast Cancer Res. 6 2004 R284 R290
25. S. Thorlacius, S. Sigurdsson, H. Bjarnadottir, G. Olafsdottir, J.G. Jonasson, L. Tryggvadottir, H. Tulinius, and J.E. Eyfjord Study of a single BRCA2 mutation with high carrier frequency in a small population Am. J. Hum. Genet. 60 1997 1079 1084
26. V. Birgisdottir, S.K. Bodvarsdottir, H. Hilmarsdottir, J.G. Jonasson, and J. Eyfjord Inactivation of the BRCA1 gene in sporadic breast cancer in Iceland AACR 94th Annual Meeting Orlando, Florida 2004
27. S. Sigurdsson, S. Thorlacius, J. Tomasson, L. Tryggvadottir, K. Benediktsdottir, J.E. Eyfjord, and E. Jonsson BRCA2 mutation in Icelandic prostate cancer patients J. Mol. Med. 75 1997 758 761
28. H. Tulinius, G.H. Olafsdottir, H. Sigvaldason, A. Arason, R.B. Barkardottir, V. Egilsson, H.M. Ogmundsdottir, L. Tryggvadottir, S. Gudlaugsdottir, and J.E. Eyfjord The effect of a single BRCA2 mutation on cancer in Iceland J. Med. Genet. 39 2002 457 462
29. R. Scully, J. Chen, A. Plug, Y. Xiao, D. Weaver, J. Feunteun, T. Ashley, and D.M. Livingston Association of BRCA1 with Rad51 in mitotic and meiotic cells Cell 88 1997 265 275
30. P. Kerr, and A. Ashworth New complexities for BRCA1 and BRCA2 Curr. Biol. 11 2001 668 676
31. R. Scully, and N. Puget BRCA1 and BRCA2 in hereditary breast cancer Biochimie 84 2002 95 102
32. A.R. Venkitaraman Cancer susceptibility and the functions of BRCA1 and BRCA2 Cell 108 2002 171 182
33. J.E. Haber DNA repair. Gatekeepers of recombination Nature 398 1999 665 667
34. A.A. Davies, J.Y. Masson, M.J. McIlwraith, A.Z. Stasiak, A. Stasiak, A.R. Venkitaraman, and S.C. West Role of BRCA2 in control of the RAD51 recombination and DNA repair protein Mol. Cell 7 2001 273 282
35. S.X. Shen, Z. Weaver, X. Xu, C. Li, M. Weinstein, L. Chen, X.Y. Guan, T. Ried, and C.X. Deng A targeted disruption of the murine Brca1 gene causes gamma-irradiation hypersensitivity and genetic instability Oncogene 17 1998 3115 3124
36. H.J. Mamon, W. Dahlberg, E.I. Azzam, H. Nagasawa, M.G. Muto, and J.B. Little Differing effects of breast cancer 1, early onset (BRCA1) and ataxia-telangiectasia mutated (ATM) mutations on cellular responses to ionizing radiation Int. J. Radiat. Biol. 79 2003 817 829
37. Y. Wang, D. Cortez, P. Yazdi, N. Neff, S.J. Elledge, and J. Qin BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures Genes Dev. 14 2000 927 939
38. A.D. D'Andrea, and M. Grompe The Fanconi anaemia/BRCA pathway Nat. Rev. Cancer 3 2003 23 34
39. J.K. Karow, R.K. Chakraverty, and I.D. Hickson The Bloom's syndrome gene product is a 3′-5′ DNA helicase J. Biol. Chem. 272 1997 30611 30614
40. P.S. Brzovic, P. Rajagopal, D.W. Hoyt, M.C. King, and R.E. Klevit Structure of a BRCA1-BARD1 heterodimeric RING-RING complex Nat. Struct. Biol. 8 2001 833 837
41. J.R. Morris, and E. Solomon BRCA1: BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair Hum. Mol. Genet. 13 2004 807 817
42. L.C. Hsu, T.P. Doan, and R.L. White Identification of a gamma-tubulin-binding domain in BRCA1 Cancer Res. 61 2001 7713 7718
43. L.C. Hsu, and R.L. White BRCA1 is associated with the centrosome during mitosis Proc. Natl. Acad. Sci. U.S.A. 95 1998 12983 12988
44. X. Xu, Z. Weaver, S.P. Linke, C. Li, J. Gotay, X.W. Wang, C.C. Harris, T. Ried, and C.X. Deng Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells Mol. Cell 3 1999 389 395
45. A.R. Hartman, and J.M. Ford BRCA1 induces DNA damage recognition factors and enhances nucleotide excision repair Nat. Genet. 32 2002 180 184
46. P.L. Chen, C.F. Chen, Y. Chen, J. Xiao, Z.D. Sharp, and W.H. Lee The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment Proc. Natl. Acad. Sci. U.S.A. 95 1998 5287 5292
47. A.K. Wong, R. Pero, P.A. Ormonde, S.V. Tavtigian, and P.L. Bartel RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2 J. Biol. Chem. 272 1997 31941 31944
48. M. Lomonosov, S. Anand, M. Sangrithi, R. Davies, and A.R. Venkitaraman Stabilization of stalled DNA replication forks by the BRCA2 breast cancer susceptibility protein Genes Dev. 17 2003 3017 3022
49. H. Yang, P.D. Jeffrey, J. Miller, E. Kinnucan, Y. Sun, N.H. Thoma, N. Zheng, P.L. Chen, W.H. Lee, and N.P. Pavletich BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure Science 297 2002 1837 1848
50. H. Wang, Z.C. Zeng, T.A. Bui, S.J. DiBiase, W. Qin, F. Xia, S.N. Powell, and G. Iliakis Nonhomologous end-joining of ionizing radiation-induced DNA double-stranded breaks in human tumor cells deficient in BRCA1 or BRCA2 Cancer Res. 61 2001 270 277
51. F. Xia, D.G. Taghian, J.S. DeFrank, Z.C. Zeng, H. Willers, G. Iliakis, and S.N. Powell Deficiency of human BRCA2 leads to impaired homologous recombination but maintains normal nonhomologous end joining Proc. Natl. Acad. Sci. U.S.A. 98 2001 8644 8649
52. V.P. Yu, M. Koehler, C. Steinlein, M. Schmid, L.A. Hanakahi, A.J. van Gool, S.C. West, and A.R. Venkitaraman Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation Genes Dev. 14 2000 1400 1406
53. A.R. Venkitaraman Chromosome stability, DNA recombination and the BRCA2 tumour suppressor Curr. Opin. Cell Biol. 13 2001 338 343
54. S. Gretarsdottir, S. Thorlacius, R. Valgardsdottir, S. Gudlaugsdottir, S. Sigurdsson, M. Steinarsdottir, J.G. Jonasson, K. Anamthawat-Jonsson, and J.E. Eyfjord BRCA2 and p53 mutations in primary breast cancer in relation to genetic instability Cancer Res. 58 1998 859 862
55. N. Howlett Biallelic inactivation of BRCA2 in Fanconi anemia Science 297 2002 606 609
56. A.R. Venkitaraman Tracing the network connecting BRCA and Fanconi anaemia proteins Nat. Rev. Cancer 4 2004 266 276
57. K. Offit, O. Levran, B. Mullaney, K. Mah, K. Nafa, S.D. Batish, R. Diotti, H. Schneider, A. Deffenbaugh, T. Scholl, V.K. Proud, M. Robson, L. Norton, N. Ellis, H. Hanenberg, and A.D. Auerbach Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia J. Natl. Cancer Inst. 95 2003 1548 1551
58. R.A. DePinho The age of cancer Nature 408 2000 248 254
59. T. de Lange Protection of mammalian telomeres Oncogene 21 2002 532 540
60. S.M. Bailey, and E.H. Goodwin DNA and telomeres: beginnings and endings Cytogenet. Genome Res. 104 2004 109 115
61. B. McClintock The stability of broken ends of chromosomes in Zea Mays Genetics 26 1941 234 282
62. P. Yaswen, and M. Stampfer Molecular changes accompanying senescence and immortalization of cultured human mammary epithelial cells Int. J. Biochem. Cell Biol. 34 2002 1382
63. C. Wei, R. Skopp, M. Takata, S. Takeda, and C.M. Price Effects of double-strand break repair proteins on vertebrate telomere structure Nucleic Acids Res. 30 2002 2862 2870
64. E. Fritz, A.A. Friedl, R.M. Zwacka, F. Eckardt-Schupp, and M.S. Meyn The yeast TEL1 gene partially substitutes for human ATM in suppressing hyperrecombination, radiation-induced apoptosis and telomere shortening in A-T cells Mol. Biol. Cell 11 2000 2605 2616
65. X.D. Zhu, B. Kuster, M. Mann, J.H. Petrini, and T. de Lange Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres Nat. Genet. 25 2000 347 352
66. E. Callen, E. Samper, M.J. Ramirez, A. Creus, R. Marcos, J.J. Ortega, T. Olive, I. Badell, M.A. Blasco, and J. Surralles Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia Hum. Mol. Genet. 11 2002 439 444
67. S.K. Bodvarsdottir, M. Steinarsdottir, H. Hilmarsdottir, V. Birgisdottir, J.G. Jonasson, and J. Eyfjord Chromosomal instability in breast tumors, including samples with BRCA2 and p53 mutations AACR 94th Annual Meeting Orlando, Florida 2004
68. M. Tirkkonen, O. Johannsson, B.A. Agnarsson, H. Olsson, S. Ingvarsson, R. Karhu, M. Tanner, J. Isola, R.B. Barkardottir, A. Borg, and O.P. Kallioniemi Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations Cancer Res. 57 1997 1222 1227
69. H. Zhou, J. Kuang, L. Zhong, W.L. Kuo, J.W. Gray, A. Sahin, B.R. Brinkley, and S. Sen Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation Nat. Genet. 20 1998 189 193
70. M. Ouchi, N. Fujiuchi, K. Sasai, H. Katayama, Y.A. Minamishima, P.P. Ongusaha, C. Deng, S. Sen, S.W. Lee, and T. Ouchi BRCA1 phosphorylation by Aurora-A in the regulation of G2 to M transition J. Biol. Chem. 279 2004 19643 19648
71. H. Yang, C.C. Ou, R.I. Feldman, S.V. Nicosia, P.A. Kruk, and J.Q. Cheng Aurora-A kinase regulates telomerase activity through c-Myc in human ovarian and breast epithelial cells Cancer Res. 64 2004 463 467
72. A.R. Meetei, J.P. de Winter, A.L. Medhurst, M. Wallisch, Q. Waisfisz, H.J. van de Vrugt, A.B. Oostra, Z. Yan, C. Ling, C.E. Bishop, M.E. Hoatlin, H. Joenje, and W. Wang A novel ubiquitin ligase is deficient in Fanconi anemia Nat. Genet. 35 2003 165 170
73. K. Nakanishi, T. Taniguchi, V. Ranganathan, H.V. New, L.A. Moreau, M. Stotsky, C.G. Mathew, M.B. Kastan, D.T. Weaver, and A.D. D'Andrea Interaction of FANCD2 and NBS1 in the DNA damage response Nat. Cell Biol. 4 2002 913 920
74. A.J.R. Fridriksdottir, T. Gudjonsson, T. Halldorsson, J. Björnsson, M. Steinarsdottir, O.T. Johannsson, H.M. Ögmundsdottir, submitted for publication.