263
Views
7
CrossRef citations to date
0
Altmetric
CHROMOSOMAL INSTABILITY IN FIBROBLASTS WITH BRCA1 AND BRCA2 MUTATIONS

Chromosomal instability induced by mammography X-rays in primary human fibroblasts from BRCA1 and BRCA2 mutation carriers

&
Pages 846-857 | Received 23 May 2012, Accepted 05 Jun 2012, Published online: 01 Oct 2012

References

  • Arnold K, Kim MK, Frerk K, Edler L, Savelyeva L, Schmezer P, Wiedemeyer R. 2006. Lower level of BRCA2 protein in heterozygous mutation carriers is correlated with an increase in DNA double-strand breaks and an impaired DSB repair. Cancer Letters 243: 90–100.
  • Baeyens A, Thierens H, Claes K, Poppe B, Deridder L, Vral A. 2004. Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers. International Journal of Radiation Biology 80:745–756.
  • Baria K, Warren C, Roberts SA, West CML, Evans DGR, Varley JM, Scott D. 2001. Correspondence re: A. Rothfuss et al. Induced micronucleus frequencies in peripheral blood lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Research 60:390–394 (2000). Cancer Research 61:5948–5949.
  • Bau DT, Fu YP, Chen ST, Cheng TC, Yu JC, Wu PE, Shen CY. 2004. Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining are affected by BRCA1. Cancer Research 64:5013–5019.
  • Belyakov OV, Prise KM, Trott KR, Michael BD. 1999. Delayed lethality, apoptosis and micronucleus formation in human fibroblasts irradiated with X-rays or alpha-particles. International Journal of Radiation Biology 75:985–993.
  • Beroukas E, Pandis N, Giannoukakos K, Rizon E, Beroukas K, Giatromanolaki A, Koukourakis M. 2010. Increased chromosomal radiosensitivity in women carrying BRCA1/BRCA2 mutations assessed with the G2 assay. International Journal of Radiation Oncology, Biology and Physics 76:1199–1205.
  • Boveri T. 1914. On the origin of malignant tumours. Leipzig: Fischer Verlag.
  • Brenner DJ. 1999. Does fractionation decrease the risk of breast cancer induced by low-LET radiation?Radiation Research 151:225–229.
  • Buchholz TA, Wu X, Hussain A, Tucker SL, Mills GB, Haffty B, Berg S, Story M, Geara FB, Brock WA. 2002. Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2. International Journal of Cancer 97:557–561.
  • Chapman KL, Kelly JW, Lee R, Goodwin EH, Kadhim MA. 2008. Tracking genomic instability within irradiated and bystander populations. Journal of Pharmacy and Pharmacology 60:959–968.
  • Chen JJ, Silver D, Cantor S, Livingston DM, Scully R. 1999. BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathway. Cancer Research 59 (7 Suppl.):1752s–1756s.
  • Chen L, Nievera CJ, Lee AY, Wu X. 2008.Cell cycle-dependent complex formation of BRCA1.CtIP.MRN is important for DNA double-strand break repair. The Journal of Biological Chemistry 283:7713–7720.
  • Deng CX. 2006. BRCA1: Cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution. Nucleic Acids Research 34:1416–1426.
  • Devi PU, Satyamitra M. 2005. Tracing radiation induced genomic instability in vivo in the haemopoietic cells from fetus to adult mouse. The British Journal of Radiology 78:928–933.
  • Duesberg P, Rausch C, Rasnick D, Heilmann R. 1998. Genetic instability of cancer cells is proportional to their degree of aneuploidy. Proceedings of the National Academy of Sciences of the USA 95:13692–13697.
  • Duesberg P, Rasnick D, Li R, Winters L, Rausch C, Heilmann R. 1999. How aneuploidy may cause cancer and genetic instability. Anticancer Research 19:4887–4906.
  • Duesberg P, Li R, Rasnick D, Rausch C, Willer A, Kraemer A, Yerganian G, Heilmann R. 2000. Aneuploidy precedes and segregates with chemical carcinogenesis. Cancer Genetics and Cytogenetics 119:83–93.
  • Fabbro M, Rodriguez JA, Baer R, Henderson BR. 2002. BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export. The Journal of Biological Chemistry 277:21315–21324.
  • Fabbro M, Savage K, Hobson K, Deans AJ, Powell SN, Mcarthur GA, Khanna KK. 2004. BCRA1-BARD1 complexes are required for p53 Ser-15 phosphorylation and a G1/S arrest following ionizing radiation-induced DNA damage. The Journal of Biological Chemistry 279:31251–31258.
  • Foray N, Randrianarison V, Marot D, Perricaudet M, Lenoir G, Feunteun J. 1999. Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2. Oncogene 18:7334–7342.
  • Ford D, Easton DF, Stratton M, Narod S, Goldgra D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, et al. 1998. Genetic heterogeneity and penetrance analysis for the BRCA1 and BRCA2 genes in breast cancer families. American Journal of Human Genetics 62:676–689.
  • Frankenberg D, Kelnhofer K, Bär K, Frankenberg-Schwager M. 2002a. Enhanced neoplastic transformation by mammography X-rays relative to 200 kVp X-rays: Indication for a strong dependence on photon energy of the RBEM for various endpoints. Radiation Research 157:99–105. Errata: 2002. Radiation Research 158:126.
  • Frankenberg D, Kelnhofer K, Garg I, Bär K, Frankenberg-Schwager M. 2002b. Enhanced mutation and neoplastic transformation in human cells by 29 kVp relative to 200 kVp X-rays indicating a strong dependence of RBE on photon energy. Radiation Protection Dosimetry 99:261–264.
  • Frankenberg-Schwager M, Garg I, Frankenberg D, Greve B, Severin E, Uthe D, Göhde W. 2002. Mutagenicity of low filtered 30 kVp X-rays, mammography X-rays and conventional (200 kVp) X-rays in cultured mammalian cells. International Journal of Radiation Biology 78:781–789.
  • Frankenberg-Schwager M, Spieren S, Pralle E, Frankenberg D. 2006. Neoplastic trandformation of a human hybrid cell line by alpha particles in relation to mammography X-rays. Radiation Protection Dosimetry 122:180–184.
  • Ganem NJ, Godinho SA, Pellman D. 2009. A mechanism linking extra centrosomes to chromosomal instability. Nature 460:278–282.
  • Jackson SP. 2002. Sensing and repairing DNA double-strand breaks. Carcinogenesis 23:687–696.
  • Joukov V, Groen AC, Prokhorova T, Gerson R, White E, Rodriguez A, Walter JC, Livingston DM. 2006. The BRAC1/BARD1 heterodimer modulates ran-dependent mitotic spindle assembly. Cell 127: 539–552.
  • Kadhim MA. 2003. Role of genetic background in induced instability. Oncogene 22:6994–6999.
  • Kadhim MA, Marsden SJ, Wright EG. 1998. Radiation-induced chromosomal instability in human fibroblasts: Temporal effects and the influence of radiation quality. International Journal of Radiation Biology 73:143–148.
  • Kadhim MA, Marsden SJ, Malcolmson AM, Folkard M, Goodhead DT, Prise KM, Michael BD. 2001. Long-term genomic instability in human lymphocytes induced by single-particle irradiation. Radiation Research 155:122–126.
  • Kadhim MA, Hill MA, Moore SR. 2006. Genomic instability and the role of radiation quality. Radiation Protection Dosimetry 122:1–4.
  • Kitagawa R, Bakkenist CJ, Mckinnon PJ, Kastan MB. 2004. Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway. Genes and Development 18:1423–1438.
  • Kolin-Gerresheim J, Bauchinger M. 1981. Dependence of the frequency of harlequin-stained cells on BrdU concentration in human lymphocyte cultures. Mutation Research 91:251–254.
  • Kops GJ, Weaver BA, Cleveland DW. 2005. On the road to cancer: Aneuploidy and the mitotic checkpoint. Nature Reviews of Cancer 5:773–785.
  • Kote-Jarai Z, Mathews L, OsorioA, Shanley S, Giddings I, Moreews F, Locke I, Evans DG, Eccles D, Carrier Clinic Collaborators , Williams RD, Girolami M, Campbell C, Eeeles R. 2006. Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage. Clinical Cancer Research 12:3896–3901.
  • Kotsopoulos J, Chen Z, Vallis KA, Poll A, Ainsworth P, Narod SA. 2007. DNA repair capacity as a possible biomarker of breast cancer risk in female BRCA1 mutation carriers. British Journal of Cancer 96:118–125.
  • Kraakman-van der Zwet M, Wiegant WW, Zdzienicka MZ. 2005. Brca2 (XRCC11) deficiency results in enhanced mutagenesis. Mutagenesis 18:521–525.
  • Kühne M, Urban G, Frankenberg D, Löbrich M. 2005. DNA double-strand break misrejoining after exposure of primary human fibroblasts to CK characteristic X-rays, 29 kVp X-rays and 60Co gamma rays. Radiation Research 164:669–676.
  • Larminat F, Germanier M, Papouli E, Defais M. 2002. Deficiency in BRCA2 leads to increase in non-conservative homologous recombination. Oncogene 21:5188–5192.
  • Laufer M, Nandula SV, Modi AP, Wang S, Jasin M, Murty VVVS, Ludwig T, Baer R. 2007. Structural requirements for the BARD1 suppressor in chromosomal stability and homology-directed repair. The Journal of Biological Chemistry 282:34325–34333.
  • Lee EY. 2002. BRCA1 and Chk1 in G2/M checkpoint: A new order of regulation. Cell Cycle 1:178–180.
  • Lee SA, Baker MD. 2007. Analysis of DNA repair and recombination responses in mouse cells depleted for Brca2 by SiRNA. DNA Repair (Amst.) 6:809–817.
  • Lingle WL, Barrett SL, Negron VC, D’Assoro AB, Boeneman K, Liu W, Whitehead CM, Reynolds C, Salisbury JL. 2002. Centrosome amplification drives chromosomal instability in breast tumor development. Proceedings of the National Academy of Sciences of the USA 99:1978–1983.
  • Liu Y, West SC. 2002. Distinct functions of BRCA1 and BRCA2 in double-strand break repair. Breast Cancer Research 4:9–13.
  • Ludwig T, Fisher P, Ganesan S, Efstratiadis A. 2001. Tumorigenesis in mice carrying a truncating Brca1 mutation. Genes and Development 15:1188–1193.
  • Marder BA, Morgan WF. 1993. Delayed chromosomal instability induced by DNA damage. Molecular Cell Biology 13:6667–6677.
  • Martins MB, Sabatier L, Ricoul M, Pinton A, Dutrillaux B. 1993. Specific chromosome instability induced by heavy ions: A step towards tranformation of human fibroblasts?Mutation Research 85:229–237.
  • Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Lia Q, Cochran C, Bennett LM, Ding W, et al. 1994. A strong candidate for breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71.
  • Moore SR, Marsden S, Macdon DA, Mitchell S, Folkard M, Michael B, Goodhead DT, Prise K, Kadhim MA. 2005. Genomic instability in human lymphocytes irradiated with individual charged particles: Involvement of tumour necrosis factor α in irradiated, but not in bystander cells. Radiation Research 163:183–190.
  • Moynahan ME, Cui TY, Jasin M. 2001a. Homology-directed DNA repair, mitomycin C resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Research 61:4842–4850.
  • Moynahan ME, Pierce AJ, Jasin M. 2001b. BRCA2 is required for homology-directed repair of chromosomal breaks. Molecular Cell 7:263–272.
  • Nakanishi A, Han X, Saito H, Tagushi K, Ohta Y, Imajoh-Ohmi S, Miki Y. 2007. Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division. Biochemical and Biophysical Research Communications 355:34–40.
  • Nicholson JM, Duesberg P. 2009. On the karyotypic origin and evolution of cancer cells. Cancer Genetics and Cytogenetics 194:96–110.
  • Nieuwenhuis B, Van Assen-Bolt AJ, Van Waarde-Verhagen MAWH, Sijmons RH, Van Der Hout AH, Bauch T, Streffer C, Kampinga HH. 2002. BRCA1 and BRCA2 heterozygosity and repair of X-ray-induced DNA damage. International Journal of Radiation Biology 78:285–295.
  • Patel KJ, Vu VP, Lee H, Corcoran A, Thistlethwaite FC, Evans MJ, Colledge WH, Friedman LS, Ponder A, Venkitaraman AR. 1998. Involvement of Brca2 in DNA repair. Molecular Cell 1:347–357.
  • Paull TT, Cortez D, Bowers B, Elledge SJ, Gellert M. 2001. Direct DNA binding by Brca1. Proceedings of the National Academy of Sciences of the USA 98:6086–6091.
  • Pihan GA, Wallace J, Zhou Y, Doxsey SJ. 2003. Centrosome abnormalities and chromosome instability occur together in pre-invasive carcinomas. Cancer Research 63:1398–1404.
  • Rothfuss A, Schütz P, Bochum S, Volm T, Eberhardt E, Kreienberg R, Vogel W, Speit G. 2000. Induced micronucleus frequencies in peripheral lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Research 60:390–394.
  • Säbel M, Aichinger H. 1996. Recent developments in breast imaging. Physics in Medicine and Biology 41:315–368.
  • Salisbury JL, D’Assoro AB, Lingle WL. 2004. Centrosome amplification and the origin of chromosomal instability in breast cancer. Journal of Mammary Gland, Biology and Neoplasia 9:275–283.
  • Scott D, Barber JBP, Spreadborough AR, Burrill W, Robert SA. 1999. Increased chromosomal radiosensitivity in breast cancer patients: A comparison of two assays. International Journal of Radiation Biology 75:1–10.
  • Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, Ashley T, Livingston DM. 1997. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88:265–275.
  • Scully R, Xie A, Nagaraju G. 2004. Molecular functions of BRCA1 in the DNA damage response. Cancer Biology & Therapy 3:521–527.
  • Smith LE, Nagar S, Kim GJ, Morgan WF. 2003. Radiation-induced genomic instability: Radiation quality and dose. Health Physics 85:23–29.
  • Snouwaert JN, Gowen LC, Latour AM, et al. 1999. BRCA1 deficient embryonic stem cells display a decreased homologous recombination frequency and an increased frequency of non-homologous recombination that is corrected by expression of a brca1 transgene. Oncogene 18:7900–7907.
  • Tarsounas M, Davies D, West SC. 2003. BRCA2-dependent and independent formation of Rad51 nuclear foci. Oncogene 22:1115–1123.
  • Trenz K, Rothfuss A, Schütz P, Speit G. 2002. Mutagen sensitivity of peripheral blood from women carrying a BRCA1 or BRCA2 mutation. Mutation Research 500:89–96.
  • Trenz K, Landgraf J, Speit G. 2003. Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation. Breast Cancer Research and Treatment 78:69–79.
  • Trenz K, Schütz P, Speit G. 2005. Radiosensitivity of lymphoblastoid cell lines with a heterozygous BRCA1 mutation is not detected by the comet assay and pulsed field gel electrophoresis. Mutagenesis 20:131–137.
  • Tutt A, Gabriel A, Bertwistle D, Connor F, Paterson H, Peacock J, Ross G, Ashworth A. 1999. Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification. Current Biology 9:1107–1110.
  • Tutt A, Ashworth A. 2002. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends in Molecular Medicine 8:571–576.
  • Vaughn JP, Cirisano FD, Huper G, Berchuck A, Futreal PA, Marks JR, Iglehart JD. 1996. Cell cycle control of BRCA2. Cancer Research 56:4590–4594.
  • Venkitaraman AR. 2002. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108:171–182.
  • Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J. 2000. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes and Development 14:927–939.
  • Wang RH, Yu H, Deng CX. 2004. A requirement for breast-cancer- associated gene 1 (BRCA1) in the spindle checkpoint. Proceedings of the National Academy of Sciences of the USA< 101:17108–17113.
  • Wang HC, Chou WC, Shieh SY, Shen CY. 2006. Ataxia telangiectasia mutated and checkpoint kinase 2 regulate BRCA1 to promote the fidelity of DNA end-joining. Cancer Research 66:1391–1400.
  • Weaver Z, Montagna C, Xu X, Howard T, Gadina M, Brodie SG, Deng CX, Ried T. 2002. Mammary tumours in mice conditionally mutant for Brca1 exhibit gross genomic instability and centrosome amplification yet display a recurring distribution of genomic imbalances that is similar to human breast cancer. Oncogene 21:5097–5107.
  • Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, et al. 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792.
  • Xia F, Taghian DG, Defrank JS, Zeng ZC, Willers H, Iliakis G, Powell SN. 2001. Deficiency of human BRCA2 leads to impaired homologous recombination but maintains normal nonhomologous end joining. Proceedings of the National Academy of Sciences of the USA 98:8644–8649.
  • Xu X, Weaver Z, Linke SP, Li C, Gotay J, Wang XW, Harris CC, Ried T, Deng CX. 1999a. Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Molecular Cell 3:389–395.
  • Xu X, Wagner KU, Larson D, Weaver Z, Li C, Ried T, Hennighausen L, Wynshaw-Boris A, Deng CX. 1999b. Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation. Nature Genetics 22:37–43.
  • Xu B, Kim ST, Kastan MB. 2001. Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionising radiation. Molecular and Cellular Biology 21:3445–3450.
  • Xu B, O’Donnell AH, Kim ST, Kastan MB. 2002. Phosphorylation of serine 1387 in Brca1 is specifically required for the ATM-mediated S-phase checkpoint after ionizing radiation. Cancer Research 62:4588–4591.
  • Yarden RI, Pardo-Reoyo S, Sgagias M, Cowan KH, Brody LC. 2002. BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage. Nature Genetics 30:285–289.
  • Yu D, Sekine E, Fujimori A, Ochiya T, Okayasu R. 2008. Down regulation of BRCA2 causes radio-sensitization of human tumor cells in vitro and in vivo. Cancer Science 99:810–815.
  • Yu V, Koehler M, Steinlein C, Schmid M, Hanakahi LA, Van Gool AJ, West SC, Venkitaraman AR. 2000. Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation. Genes and Development 14:1400–1406.
  • Yu X, Chen J. 2004. DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains. Molecular and Cellular Biology 24:9478–9486.
  • Yuan SS, Lee SY, Chen G, Song M, Tomlinson GE, Lee EY. 1999. BRCA2 is required for ionizing radiation-induced assembly of Rad51 complex in vivo. Cancer Research 59:3547–3551.
  • Zhuang J, Zhang J, Willers H, Wang H, Chung JH, Van Gent DC, Hallahan DE, Pöwell SN, Xia F. 2006. Checkpoint kinase 2-mediated phosphorylation of BRCA1 regulates the fidelity of nonhomologous end-joining. Cancer Research 66:1401–1408.
  • Zhong Q, Chen CF, Chen PL, Lee WH. 2002. BRCA1 facilitates microhomology-mediated end joining of DNA double-strand breaks. The Journal of Biological Chemistry 277:28641–28647.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.