Cancer Letters
Volume 227, Issue 1 , Pages 1-7 , 8 September 2005

BRCA1 in breast and ovarian cancer predisposition

  • Blase Billack

      Affiliations

    • Department of Pharmaceutical Sciences, College of Pharmacy and Allied Health Professions, St John's University, Jamaica, NY 11439, USA
  • ,
  • Alvaro N.A. Monteiro

      Affiliations

    • H. Lee Moffitt Cancer Center & Research Institute, MRC 3 West, 12902 Magnolia Drive, Tampa, FL 33612, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1 813 745 6321; fax: +1 813 745 1720.

Received 25 October 2004 ,Accepted 1 November 2004.

References 

  1. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250(4988):1684–1689
  2. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66–71
  3. Easton DF, Bishop DT, Ford D, Crockford GP. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 1993;52(4):678–701
  4. Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science. 1994;266(5182):120–122
  5. Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat. Genet. 1995;9(4):439–443
  6. Brodie SG, Deng CX. BRCA1-associated tumorigenesis: what have we learned from knockout mice?. Trends Genet. 2001;17(10):S18–S22
  7. Scully R, Xie A, Nagaraju G. Molecular functions of BRCA1 in the DNA damage response. Cancer Biol. Ther. 2004;3(6):521–527
  8. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat. Rev. Cancer. 2004;4(9):665–676
  9. Scully R, Chen J, Ochs RL, Keegan K, Hoekstra M, Feunteun J, et al. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell. 1997;90(3):425–435
  10. Scully R, Ganesan S, Brown M, de Caprio JA, Cannistra SA, Feunteun J, et al. Location of BRCA1 in human breast and ovarian cancer cells [letter; comment]. Science. 1996;272(5258):123–126
  11. Moynahan ME, Chiu JW, Koller BH, Jasin M. Brca1 controls homology-directed DNA repair. Mol. Cell. 1999;4(4):511–518
  12. Baldeyron C, Jacquemin E, Smith J, Jacquemont C, De Oliveira I, Gad S, et al. A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining. Oncogene. 2002;21(9):1401–1410
  13. Wang H, Zeng ZC, Bui TA, DiBiase SJ, Qin W, Xia F, et al. Nonhomologous end-joining of ionizing radiation-induced DNA double-stranded breaks in human tumor cells deficient in BRCA1 or BRCA2. Cancer Res. 2001;61(1):270–277
  14. Zhong Q, Boyer TG, Chen PL, Lee WH. Deficient nonhomologous end-joining activity in cell-free extracts from Brca1-null fibroblasts. Cancer Res. 2002;62(14):3966–3970
  15. Abbott DW, Thompson ME, Robinson-Benion C, Tomlinson G, Jensen RA, Holt JT. BRCA1 expression restores radiation resistance in BRCA1-defective cancer cells through enhancement of transcription-coupled DNA repair. J. Biol. Chem. 1999;274(26):18808–18812
  16. Zhong Q, Chen CF, Chen PL, Lee WH. BRCA1 facilitates microhomology-mediated end joining of DNA double strand breaks. J. Biol. Chem. 2002;277(32):28641–28647
  17. Shen SX, Weaver Z, Xu X, Li C, Weinstein M, Chen L, et al. A targeted disruption of the murine Brca1 gene causes gamma-irradiation hypersensitivity and genetic instability. Oncogene. 1998;17(24):3115–3124
  18. Zhou BB, Elledge SJ. The DNA damage response: putting checkpoints in perspective. Nature. 2000;408(6811):433–439
  19. Hashizume R, Fukuda M, Maeda I, Nishikawa H, Oyake D, Yabuki Y, et al. The ring heterodimer brca1–bard1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J. Biol. Chem. 2001;276(18):14537–14540
  20. Ruffner H, Joazeiro CA, Hemmati D, Hunter T, Verma IM. Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. Proc. Natl Acad. Sci. USA. 2001;98(9):5134–5139
  21. Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, et al. BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer. Cell. 2000;102(2):257–265
  22. Yarden RI, Brody LC. BRCA1 interacts with components of the histone deacetylase complex. Proc. Natl Acad. Sci. USA. 1999;96(9):4983–4988
  23. Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001;105(1):149–160
  24. Wang Q, Zhang H, Kajino K, Greene MI. BRCA1 binds c-Myc and inhibits its transcriptional and transforming activity in cells. Oncogene. 1998;17(15):1939–1948
  25. Monteiro AN, August A, Hanafusa H. Evidence for a transcriptional activation function of BRCA1 C-terminal region. Proc. Natl Acad. Sci. USA. 1996;93(24):13595–13599
  26. Chapman MS, Verma IM. Transcriptional activation by BRCA1 [letter; comment]. Nature. 1996;382(6593):678–679
  27. Kleiman FE, Manley JL. Functional interaction of BRCA1-associated BARD1 with polyadenylation factor CstF-50. Science. 1999;285(5433):1576–1579
  28. Krum SA, Miranda GA, Lin C, Lane TF. BRCA1 associates with processive RNA polymerase II. J. Biol. Chem. 2003;278(52):52012–52020
  29. Scully R, Anderson SF, Chao DM, Wei W, Ye L, Young RA, et al. BRCA1 is a component of the RNA polymerase II holoenzyme. Proc. Natl Acad. Sci. USA. 1997;94(11):5605–5610
  30. Monteiro AN. BRCA1: exploring the links to transcription. Trends Biochem. Sci. 2000;25(10):469–474
  31. Starita LM, Parvin JD. The multiple nuclear functions of BRCA1: transcription, ubiquitination and DNA repair. Curr. Opin. Cell Biol. 2003;15(3):345–350
  32. Meza JE, Brzovic PS, King MC, Klevit RE. Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1. J. Biol. Chem. 1999;274(9):5659–5665
  33. Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, et al. Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nat. Genet. 1996;14(4):430–440
  34. Pickart CM. Ubiquitin enters the new millennium. Mol. Cell. 2001;8(3):499–504
  35. Hershko A. Ubiquitin: roles in protein modification and breakdown. Cell. 1983;34(1):11–12
  36. Pickart CM. Mechanisms underlying ubiquitination. Annu. Rev. Biochem. 2001;70:503–533
  37. Lorick KL, Jensen JP, Fang S, Ong AM, Hatakeyama S, Weissman AM. RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination. Proc. Natl Acad. Sci. USA. 1999;96(20):11364–11369
  38. Baer R, Ludwig T. The BRCA1/BARD1 heterodimer, a tumor suppressor complex with ubiquitin E3 ligase activity. Curr. Opin. Genet. Dev. 2002;12(1):86–91
  39. Vandenberg CJ, Gergely F, Ong CY, Pace P, Mallery DL, Hiom K, et al. BRCA1-independent ubiquitination of FANCD2. Mol. Cell. 2003;12(1):247–254
  40. Mallery DL, Vandenberg CJ, Hiom K. Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains. Eur. Mol. Biol. Organ. J. 2002;21(24):6755–6762
  41. Chen A, Kleiman FE, Manley JL, Ouchi T, Pan ZQ. Autoubiquitination of the BRCA1*BARD1 RING ubiquitin ligase. J. Biol. Chem. 2002;277(24):22085–22092
  42. Sato K, Hayami R, Wu W, Nishikawa T, Nishikawa H, Okuda Y, et al. Nucleophosmin/B23 is a candidate substrate for the BRCA1–BARD1 ubiquitin ligase. J. Biol. Chem. 2004;279(30):30919–30922
  43. Starita LM, Machida Y, Sankaran S, Elias JE, Griffin K, Schlegel BP, et al. BRCA1-dependent ubiquitination of gamma-tubulin regulates centrosome number. Mol. Cell Biol. 2004;24(19):8457–8466
  44. Dong Y, Hakimi MA, Chen X, Kumaraswamy E, Cooch NS, Godwin AK, et al. Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair. Mol. Cell. 2003;12(5):1087–1099
  45. Choudhury AD, Xu H, Baer R. Ubiquitination and proteasomal degradation of the BRCA1 tumor suppressor is regulated during cell cycle progression. J. Biol. Chem. 2004;279(32):33909–33918
  46. Rogakou EP, Nieves-Neira W, Boon C, Pommier Y, Bonner WM. Initiation of DNA fragmentation during apoptosis induces phosphorylation of H2AX histone at serine 139. J. Biol. Chem. 2000;275(13):9390–9395
  47. Paull TT, Rogakou EP, Yamazaki V, Kirchgessner CU, Gellert M, Bonner WM. A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage. Curr. Biol. 2000;10(15):886–895
  48. Wu-Baer F, Lagrazon K, Yuan W, Baer R. The BRCA1/BARD1 heterodimer assembles polyubiquitin chains through an unconventional linkage involving lysine residue K6 of ubiquitin. J. Biol. Chem. 2003;278(37):34743–34746
  49. Nishikawa H, Ooka S, Sato K, Arima K, Okamoto J, Klevit RE, et al. Mass spectrometric and mutational analyses reveal Lys-6-linked polyubiquitin chains catalyzed by BRCA1-BARD1 ubiquitin ligase. J. Biol. Chem. 2004;279(6):3916–3924
  50. Koonin EV, Altschul SF, Bork P. BRCA1 protein products… Functional motifs… [letter]. Nat. Genet. 1996;13(3):266–268
  51. Bork P, Hofmann K, Bucher P, Neuwald AF, Altschul SF, Koonin EV. A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. Fed. Am. Soc. Exp. Biol. J. 1997;11(1):68–76
  52. Callebaut I, Mornon JP. From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair. Fed. Eur. Biochem. Soc. Lett. 1997;400(1):25–30
  53. Szabo CI, Worley T, Monteiro AN. Understanding germ-line mutations in BRCA1. Cancer Biol. Ther. 2004;3(6):515–520
  54. Rodriguez M, Yu X, Chen J, Songyang Z. Phosphopeptide binding specificities of BRCA1 COOH-terminal (BRCT) domains. J. Biol. Chem. 2003;278(52):52914–52918
  55. Manke IA, Lowery DM, Nguyen A, Yaffe MB. BRCT repeats as phosphopeptide-binding modules involved in protein targeting. Science. 2003;302(5645):636–639
  56. Yu X, Chini CC, He M, Mer G, Chen J. The BRCT domain is a phospho-protein binding domain. Science. 2003;302(5645):639–642
  57. Williams RS, Lee MS, Hau DD, Glover JN. Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. Nat. Struct. Mol. Biol. 2004;
  58. Clapperton JA, Manke IA, Lowery DM, Ho T, Haire LF, Yaffe MB, et al. Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. Nat. Struct. Mol. Biol. 2004;
  59. Botuyan MV, Nomine Y, Yu X, Juranic N, Macura S, Chen J, et al. Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains. Structure (Cambridge). 2004;12(7):1137–1146
  60. Shiozaki EN, Gu L, Yan N, Shi Y. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol. Cell. 2004;14(3):405–412
  61. Moisan A, Larochelle C, Guillemette B, Gaudreau L. BRCA1 can modulate RNA polymerase II carboxy-terminal domain phosphorylation levels. Mol. Cell Biol. 2004;24(16):6947–6956
  62. Scully R, Ganesan S, Vlasakova K, Chen J, Socolovsky M, Livingston DM. Genetic analysis of BRCA1 function in a defined tumor cell line. Mol. Cell. 1999;4(6):1093–1099
  63. Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, et al. Localization of BRCA1 and a splice variant identifies the nuclear localization signal. Mol. Cell Biol. 1997;17(1):444–452
  64. Rodriguez JA, Henderson BR. Identification of a functional nuclear export sequence in BRCA1. J. Biol. Chem. 2000;275(49):38589–38596
  65. Rodriguez JA, Au WW, Henderson BR. Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain. Exp. Cell Res. 2004;293(1):14–21
  66. Thompson D, Easton DF. Cancer incidence in BRCA1 mutation carriers. J. Natl Cancer Inst. 2002;94(18):1358–1365
  67. Monteiro AN. BRCA1: the enigma of tissue-specific tumor development. Trends Genet. 2003;19(6):312–315
  68. Fan S, Ma YX, Wang C, Yuan RQ, Meng Q, Wang JA, et al. Role of direct interaction in BRCA1 inhibition of estrogen receptor activity. Oncogene. 2001;20(1):77–87
  69. Zheng L, Annab LA, Afshari CA, Lee WH, Boyer TG. BRCA1 mediates ligand-independent transcriptional repression of the estrogen receptor. Proc. Natl Acad. Sci. USA. 2001;98(17):9587–9592
  70. Elledge SJ, Amon A. The BRCA1 suppressor hypothesis: an explanation for the tissue-specific tumor development in BRCA1 patients. Cancer Cell. 2002;1:129–132

PII: S0304-3835(04)00864-X

doi: 10.1016/j.canlet.2004.11.006

Cancer Letters
Volume 227, Issue 1 , Pages 1-7 , 8 September 2005