International Journal of Radiation Oncology * Biology * Physics
Volume 48, Issue 4 , Pages 959-965 , 1 November 2000

Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients

  • Trevor Leong, B.S. (M.B., F.R.A.C.R.)

      Affiliations

    • Divisions of Radiation Oncology and Research, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    • ,
  • Jonathan Whitty, B.Sc.

      Affiliations

    • Department of Pathology, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    • ,
  • Michelle Keilar, B.Sc.

      Affiliations

    • Department of Pathology, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    • ,
  • Sharon Mifsud, B.Sc.

      Affiliations

    • Department of Pathology, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    • ,
  • Jonathan Ramsay, M.D., B.S. (M.R.C.P., F.R.C.R., F.R.A.C.R.)

      Affiliations

    • Queensland Radium Institute and Queensland Institute of Medical Research, Brisbane, Australia
    • ,
  • Geoffrey Birrell, B.Sc., Ph.D.

      Affiliations

    • Queensland Radium Institute and Queensland Institute of Medical Research, Brisbane, Australia
    • ,
  • Deon Venter, Ph.D. (M.B., Ch.B., F.R.C.P.A., M.B.A.)

      Affiliations

    • Department of Pathology and Division of Research, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    • ,
  • Melissa Southey, Ph.D. (Grad. Dip. Law.)

      Affiliations

    • Department of Pathology and Division of Research, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    • ,
  • Michael McKay, B.S., Ph.D. (M.B., F.R.A.C.R.)

      Affiliations

    • Divisions of Radiation Oncology and Research, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia
    • Corresponding Author InformationReprint requests to: Assoc. Prof. Michael McKay, Division of Radiation Oncology, Peter MacCallum Cancer Institute, Locked Bag 1, A’Beckett Street, Victoria, 8006, Australia. Tel: +61 3 96561111. Fax: +61 3 96561424

,Accepted 2 June 2000.

References 

  1. Norman A, Kagan AR, Chan SL. The importance of genetics for the optimisation of radiation therapy. Am J Clin Oncol. 1988;11:84–88
  2. West CML, Davidson SE, Elyan SAG, et al.  The intrinsic radiosensitivity of normal and tumour cells. Int J Radiat Biol. 1998;73:409–413
  3. Fletcher G. Introduction to the Regaud lecture. Radiother Oncol. 1990;17:176
  4. McKay MJ, Peters LJ. Genetic determinants of radiation response. Int J Radiat Biol. 1997;71:225–229
  5. Savitsky K, Bar-Shira A, Gilad S, et al.  A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science. 1995;268:1749–1753
  6. Appleby JM, Barber JBP, Levine E, et al.  Absence of mutations in the ATM gene in breast cancer patients with severe responses to radiotherapy. Br J Cancer. 1997;76:1546–1549
  7. Ramsay J, Birrell G, Lavin M. Testing for mutations of the ataxia telangiectasia gene in radiosensitive breast cancer patients. Radother Oncol. 1998;47:125–128
  8. Clarke RA, Goozee GR, Birrell G, et al.  Absence of ATM truncations in patients with severe acute radiation reactions. Int J Radiat Oncol Biol Phys. 1998;41:1021–1027
  9. Shayeghi M, Seal S, Regan J, et al.  Heterozygosity for mutations in the ataxia telangiectasia gene is not a major cause of radiotherapy complications in breast cancer patients. Br J Cancer. 1998;78:922–927
  10. Hall EJ, Schiff PB, Hanks GE, et al.  A preliminary report (Frequency of A-T heterozygotes among prostate cancer patients with severe late responses to radiation therapy). Cancer J Sci Am. 1998;4:385–389
  11. Oppitz U, Bernthaler U, Schindler D, et al.  Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects. Int J Radiat Oncol Biol Phys. 1999;44:981–988
  12. Casey G. The BRCA1 and BRCA2 breast cancer genes. Curr Opin Oncol. 1997;9:88–93
  13. Bertwistle D, Ashworth A. Functions of the BRCA1 and BRCA2 genes. Curr Opin Genet Dev. 1998;6:93–97
  14. Breast Informat. Core (BIC) database: http://www.nhgri.nih.gov/Intramural research/Lab transfer/Bic/
  15. Shen S, Weaver Z, Xu X, et al.  A targeted disruption of the murine BRCA1 gene causes gamma-irradiation hypersensitivity and genetic instability. Oncogene. 1998;17:3115–3124
  16. Sharan SK, Morimatsu M, Albrecht U, et al.  Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking BRCA2. Nature. 1997;386:804–810
  17. Connor F, Bertwistle D, Mee PJ, et al.  Tumorigenesis and a DNA repair defect in mice with a truncating BRCA2 mutation. Nature Genet. 1997;17:423–430
  18. Xu X, Weaver Z, Linke SP, et al.  Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Mol Cell. 1999;3:389–395
  19. Neitzel H. A routine method for the establishment of permanent growth lymphoblastoid cell lines. Hum Genet. 1986;73:320–326
  20. Roest PA, Roberts RG, Sugino S, et al.  Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet. 1993;2:1719–1721
  21. Simard J, Tonin P, Durocher F, et al.  Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nature Genet. 1994;8:392–398
  22. Friedman LS, Ostermeyer EA, Szabo CL, et al.  Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genet. 1994;8:399–404
  23. Southey MC, Tesoriero AA, Andersen CR, et al.  BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer. Br J Cancer. 1999;9:34–39
  24. Puget N, Sinilnikova OM, Stoppa-Lyonnet D, et al.  An Alu-Mediated 6-kb duplication in the BRCA1 gene (A new founder mutation?). Am J Hum Genet. 1999;64:300–302
  25. Irminger-Finger I, Siegel BD, Leung WC. The functions of breast cancer susceptibility gene 1 (BRCA1) product and its associated proteins. Biol Chem. 1999;380:117–128
  26. Wu LC, Wang ZW, Tsan JT, et al.  Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nature Genet. 1996;14:430–440
  27. Wang Q, Zhang H, Kajino K, et al.  BRCA1 binds c-Myc and inhibits its transcriptional and transforming activity in cells. Oncogene. 1998;17:1939–1948
  28. Zhang H, Somasundaram K, Peng Y, et al.  BRCA1 physically associates with p53 and stimulates its transcriptional activity. Oncogene. 1998;16:1713–1721
  29. Chen CF, Li S, Chen Y, et al.  The nuclear localization sequences of the BRCA1 protein interact with the importin-α subunit of the nuclear transport signal receptor. J Biol Chem. 1996;271:32863–32868
  30. Scully R, Anderson SF, Chao DM, et al.  Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell. 1997;88:265–275
  31. Jensen RA, Thompson ME, Jetton TL, et al.  BRCA1 is secreted and exhibits properties of a granin. Nature Genet. 1996;12:303–308
  32. Scully R, Anderson SF, Chao DM, et al.  BRCA1 is a component of the RNA polymerase II holoenzyme. Proc Natl Acad Sci USA. 1997;94:5605–5610
  33. Anderson SF, Schlegel BP, Nakajima T, et al.  BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A. Nature Genet. 1998;19:254–256
  34. Chen J, Silver DP, Walpita D, et al.  Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol Cell. 1998;2:317–328
  35. Milner J, Ponder B, Hughes-Davies L, et al.  Transcriptional activation functions in BRCA2. Nature. 1997;386:772–773
  36. Bork P, Blomberg N, Nilges M. Internal repeats in the BRCA2 protein sequence. Nature Genet. 1996;13:22–23
  37. Berman DB, Costalas J, Schultz DC, et al.  A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res. 1996;56:3409–3414
  38. Struewing JP, Abeliovich D, Peterz T, et al.  The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet. 1995;11:198–200
  39. Friedman LS, Szabo CI, Ostermeyer EA, et al.  Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet. 1995;57:1284–1297
  40. Breast Cancer Information Core Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutat. 1996;8:8–18
  41. Gayther SA, Harrington P, Russell P, et al.  Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. Am J Hum Genet. 1996;58:451–456
  42. Hopper JL, Southey MC, Dite GS; et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Cancer Epidemiol Biomar. In press.
  43. Garvin AM. A complete protein truncation test for BRCA1 and BRCA2. Eur J Hum Genet. 1998;6:226–234
  44. De Benedetti VM, Radice P, Mondini P, et al.  Screening for mutations in exon 11 of the BRCA1 gene in 70 Italian breast and ovarian cancer patients by protein truncation test. Oncogene. 1996;13:1353–1357
  45. Badie C, Iliakis G, Foray N, et al.  Defective repair of DNA double-strand breaks and chromosome damage in fibroblasts from a radiosensitive leukemia patient. Cancer Res. 1995;55:1232–1234
  46. Riballo E, Critchlow SE, Teo SH, et al.  Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr Biol. 1999;9:699–702
  47. Boyd M, Harris F, McFarlane R, et al.  A human BRCA1 gene knockout. Nature. 1995;375:541–542
  48. Gayther SA, Warren W, Mazoyer S, et al.  Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nature Genet. 1995;11:428–433
  49. Lim DS, Hasty P. A mutation in mouse rad51 results in an early embryonic lethal that is suppressed by a mutation in p53. Mol Cell Biol. 1996;16:7133–7143

PII: S0360-3016(00)00728-8

International Journal of Radiation Oncology * Biology * Physics
Volume 48, Issue 4 , Pages 959-965 , 1 November 2000

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