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Genetic Modifiers of Risk of BRCA1- and BRCA2-Related Breast and Ovarian Cancers

  • Georgia Chenevix-Trench
  • Antonis C. Antoniou
Chapter
Part of the Cancer Genetics book series (CANGENETICS)

Abstract

Mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancers as well as other cancers [1,2]. Several studies have estimated the breast and ovarian cancer risks associated with BRCA1 and BRCA2 mutations [3–11]. Initial studies, based on families with multiple affected individuals, estimated that the risk of breast cancer by age 70 is 85% in BRCA1 and 84% in BRCA2 mutation carriers

Keywords

Breast Cancer Ovarian Cancer Cancer Risk Androgen Receptor Breast Cancer Risk 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    BCLC. (1999). J Natl Cancer Inst, 91, 1310–6.Google Scholar
  2. 2.
    Thompson D and Easton DF. (2002). J Natl Cancer Inst, 94, 1358–65.PubMedGoogle Scholar
  3. 3.
    Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG and Easton DF. (2003). Am J Hum Genet, 72, 1117–30.CrossRefPubMedGoogle Scholar
  4. 4.
    Begg CB, Haile RW, Borg A, Malone KE, Concannon P, Thomas DC, Langholz B, Bernstein L, Olsen JH, Lynch CF, Anton-Culver H, Capanu M, Liang X, Hummer AJ, Sima C and Bernstein JL. (2008). JAMA, 299, 194–201.CrossRefPubMedGoogle Scholar
  5. 5.
    Easton DF, Ford D and Bishop DT. (1995). Am J Hum Genet, 56, 265–71.PubMedGoogle Scholar
  6. 6.
    Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M, et al. (1998). Am J Hum Genet, 62, 676–89.CrossRefPubMedGoogle Scholar
  7. 7.
    Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF and Venter DJ. (1999). Cancer Epidemiol Biomarkers Prev, 8, 741–7.PubMedGoogle Scholar
  8. 8.
    Milne R, Osorio A, Ramon y Cajal T, Vega A, Llort G, de la Hoya M, Diez O, Alonso M, Lazaro C, Blanco I, Sanchez-de-Abajo A, Caldes T, Blano A, Grana G, Duran M, Velasco E, Chirivella I, Esteban Cardenosa E, Tejada M-I, EBeristain E, Miramar M-D, Calvo M-T, Martinex E, Guillen C, Salazar R, San Roman C, Antoniou A, Urioste M and Benitez J. (2008). Clin Cancer Res, 14, 2861–9.CrossRefPubMedGoogle Scholar
  9. 9.
    Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B and Narod SA. (2001). Am J Hum Genet, 68, 700–710.CrossRefPubMedGoogle Scholar
  10. 10.
    Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC and Tucker MA. (1997). N Engl J Med, 336, 1401–8.CrossRefPubMedGoogle Scholar
  11. 11.
    Tryggvadottir L, Sigvaldason H, Olafsdottir GH, Jonasson JG, Jonsson T, Tulinius H and Eyfjord JE. (2006). J Natl Cancer Inst, 98, 116–22.CrossRefPubMedGoogle Scholar
  12. 12.
    Simchoni S, Friedman E, Kaufman B, Gershoni-Baruch R, Orr-Urtreger A, Kedar-Barnes I, Shiri-Sverdlov R, Dagan E, Tsabari S, Shohat M, Catane R, King MC, Lahad A and Levy-Lahad E. (2006). Proc Natl Acad Sci USA, 103, 3770–4.CrossRefPubMedGoogle Scholar
  13. 13.
    Boyd NF, Dite GS, Stone J, Gunasekara A, English DR, McCredie MR, Giles GG, Tritchler D, Chiarelli A, Yaffe MJ and Hopper JL. (2002). N Engl J Med, 347, 886–94.CrossRefPubMedGoogle Scholar
  14. 14.
    Boyd NF, Rommens JM, Vogt K, Lee V, Hopper JL, Yaffe MJ and Paterson AD. (2005). Lancet Oncol, 6, 798–808.CrossRefPubMedGoogle Scholar
  15. 15.
    Vachon CM, Sellers TA, Carlson EE, Cunningham JM, Hilker CA, Smalley RL, Schaid DJ, Kelemen LE, Couch FJ and Pankratz VS. (2007). Cancer Res, 67, 8412–8.CrossRefPubMedGoogle Scholar
  16. 16.
    Mitchell G, Antoniou AC, Warren R, Peock S, Brown J, Davies R, Mattison J, Cook M, Warsi I, Evans DG, Eccles D, Douglas F, Paterson J, Hodgson S, Izatt L, Cole T, Burgess L, Eeles R and Easton DF. (2006). Cancer Res, 66, 1866–72.CrossRefPubMedGoogle Scholar
  17. 17.
    Evans D, Smith A, Boyd M, Bulman M, Woodward E, Smith L, Moran A, Lalloo F and Maher E. (2005). Am J Hum Genet, Abstract 71.Google Scholar
  18. 18.
    Antoniou A, Cunningham A, Peto J, Evans D, Lalloo F, Narod S, Risch H, Eyfjord J, Hopper J, Southey M, Olsson H, Johannsson A, Borg A, Passini B, Radice P, Manoukian S, Eccles D, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tryggvadottir L, Syrjakoski K, Kallioniemi O-P, Eerola H, Nevanlinna H, Pharoah P and Easton D. (2008). Br J Cancer, 98, 1457–66.CrossRefPubMedGoogle Scholar
  19. 19.
    Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ and Easton DF. (2002). Br J Cancer, 86, 76–83.CrossRefPubMedGoogle Scholar
  20. 20.
    Thompson D and Easton D. (2001). Am J Hum Genet, 68, 410–9.CrossRefPubMedGoogle Scholar
  21. 21.
    Thompson D and Easton D. (2002). Cancer Epidemiol Biomarkers Prev, 11, 329–36.PubMedGoogle Scholar
  22. 22.
    Narod SA and Foulkes WD. (2004). Nat Rev Cancer, 4, 665–76.CrossRefPubMedGoogle Scholar
  23. 23.
    Antoniou AC and Easton DF. (2006). Oncogene, 25, 5898–905.CrossRefPubMedGoogle Scholar
  24. 24.
    Khoury MJ, Beaty TH and Liang KY. (1988). Am J Epidemiol, 127, 674–83.PubMedGoogle Scholar
  25. 25.
    Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L and Easton DF. (2002). J Clin Oncol, 20, 2310–8.CrossRefPubMedGoogle Scholar
  26. 26.
    Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF and Ponder BA. (2002). Nat Genet, 31, 33–6.CrossRefPubMedGoogle Scholar
  27. 27.
    Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF and Goldgar DE. (2007). Breast Cancer Res, 9, 104.CrossRefPubMedGoogle Scholar
  28. 28.
    Giguere Y, Dewailly E, Brisson J, Ayotte P, Laflamme N, Demers A, Forest VI, Dodin S, Robert J and Rousseau F. (2001). Cancer Res, 61, 5869–74.PubMedGoogle Scholar
  29. 29.
    Haiman CA, Brown M, Hankinson SE, Spiegelman D, Colditz GA, Willett WC, Kantoff PW and Hunter DJ. (2002). Cancer Res, 62, 1045–9.PubMedGoogle Scholar
  30. 30.
    Modugno F. (2004). Am J Epidemiol, 159, 319–35.CrossRefPubMedGoogle Scholar
  31. 31.
    Spurdle AB, Antoniou AC, Duffy DL, Pandeya N, Kelemen L, Chen X, Peock S, Cook MR, Smith PL, Purdie DM, Newman B, Dite GS, Apicella C, Southey MC, Giles GG, Hopper JL, Chenevix-Trench G and Easton DF. (2005). Breast Cancer Res, 7, R176–83.CrossRefPubMedGoogle Scholar
  32. 32.
    Suter NM, Malone KE, Daling JR, Doody DR and Ostrander EA. (2003). Cancer Epidemiol Biomarkers Prev, 12, 127–35.PubMedGoogle Scholar
  33. 33.
    Zeegers MP, Kiemeney LA, Nieder AM and Ostrer H. (2004). Cancer Epidemiol Biomarkers Prev, 13, 1765–71.PubMedGoogle Scholar
  34. 34.
    Rebbeck TR, Kantoff PW, Krithivas K, Neuhausen S, Blackwood MA, Godwin AK, Daly MB, Narod SA, Garber JE, Lynch HT, Weber BL and Brown M. (1999). Am J Hum Genet, 64, 1371–7.CrossRefPubMedGoogle Scholar
  35. 35.
    Kadouri L, Easton DF, Edwards S, Hubert A, Kote-Jarai Z, Glaser B, Durocher F, Abeliovich D, Peretz T and Eeles RA. (2001). Br J Cancer, 85, 36–40.CrossRefPubMedGoogle Scholar
  36. 36.
    Dagan E, Friedman E, Paperna T, Carmi N and Gershoni-Baruch R. (2002). Eur J Hum Genet, 10, 724–8.CrossRefPubMedGoogle Scholar
  37. 37.
    Kim SC, Ju W, Mahavni V, Geisler JP and Buller RE. (2006). Int J Gynecol Cancer, 16 Suppl 1, 190–4.CrossRefPubMedGoogle Scholar
  38. 38.
    Menin C, Banna GL, De Salvo G, Lazzarotto V, De Nicolo A, Agata S, Montagna M, Sordi G, Nicoletto O, Chieco-Bianchi L and D’Andrea E. (2001). Cancer Lett, 168, 31–6.CrossRefPubMedGoogle Scholar
  39. 39.
    Irvine RA, Ma H, Yu MC, Ross RK, Stallcup MR and Coetzee GA. (2000). Hum Mol Genet, 9, 267–74.CrossRefPubMedGoogle Scholar
  40. 40.
    Rebbeck TR, Wang Y, Kantoff PW, Krithivas K, Neuhausen SL, Godwin AK, Daly MB, Narod SA, Brunet JS, Vesprini D, Garber JE, Lynch HT, Weber BL and Brown M. (2001). Cancer Res, 61, 5420–4.PubMedGoogle Scholar
  41. 41.
    Colilla S, Kantoff PW, Neuhausen SL, Godwin AK, Daly MB, Narod SA, Garber JE, Lynch HT, Brown M, Weber BL and Rebbeck TR. (2006). Carcinogenesis, 27, 599–605.CrossRefPubMedGoogle Scholar
  42. 42.
    Kadouri L, Kote-Jarai Z, Easton DF, Hubert A, Hamoudi R, Glaser B, Abeliovich D, Peretz T and Eeles RA. (2004). Int J Cancer, 108, 399–403.CrossRefPubMedGoogle Scholar
  43. 43.
    Hughes DJ, Ginolhac SM, Coupier I, Barjhoux L, Gaborieau V, Bressac-de-Paillerets B, Chompret A, Bignon YJ, Uhrhammer N, Lasset C, Giraud S, Sobol H, Hardouin A, Berthet P, Peyrat JP, Fournier J, Nogues C, Lidereau R, Muller D, Fricker JP, Longy M, Toulas C, Guimbaud R, Yannoukakos D, Mazoyer S, Lynch HT, Lenoir GM, Goldgar DE, Stoppa-Lyonnet D and Sinilnikova OM. (2005). Int J Cancer, 117, 230–3.CrossRefPubMedGoogle Scholar
  44. 44.
    Spurdle AB, Antoniou AC, Kelemen L, Holland H, Peock S, Cook MR, Smith PL, Greene MH, Simard J, Plourde M, Southey MC, Godwin AK, Beck J, Miron A, Daly MB, Santella RM, Hopper JL, John EM, Andrulis IL, Durocher F, Struewing JP, Easton DF and Chenevix-Trench G. (2006). Cancer Epidemiol Biomarkers Prev, 15, 76–9.CrossRefPubMedGoogle Scholar
  45. 45.
    Thomas M, Kalita A, Labrecque S, Pim D, Banks L and Matlashewski G. (1999). Mol Cell Biol, 19, 1092–100.PubMedGoogle Scholar
  46. 46.
    Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet JS, Stickeler E, Kieback DG, Kreienberg R, Weber B, Narod SA and Runnebaum IB. (1999). Br J Cancer, 81, 179–83.CrossRefPubMedGoogle Scholar
  47. 47.
    Osorio A, Martinez-Delgado B, Pollan M, Cuadros M, Urioste M, Torrenteras C, Melchor L, Diez O, De La Hoya M, Velasco E, Gonzalez-Sarmiento R, Caldes T, Alonso C and Benitez J. (2006). Hum Mutat, 27, 242–8.CrossRefPubMedGoogle Scholar
  48. 48.
    Karran P. (2000). Curr Opin Genet Dev, 10, 144–50.CrossRefPubMedGoogle Scholar
  49. 49.
    Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, Ashley T and Livingston DM. (1997). Cell, 88, 265–75.CrossRefPubMedGoogle Scholar
  50. 50.
    Wong AK, Pero R, Ormonde PA, Tavtigian SV and Bartel PL. (1997). J Biol Chem, 272, 31941–4.CrossRefPubMedGoogle Scholar
  51. 51.
    Shu Z, Smith S, Wang L, Rice MC and Kmiec EB. (1999). Mol Cell Biol, 19, 8686–93.PubMedGoogle Scholar
  52. 52.
    Levy-Lahad E, Lahad A, Eisenberg S, Dagan E, Paperna T, Kasinetz L, Catane R, Kaufman B, Beller U, Renbaum P and Gershoni-Baruch R. (2001). Proc Natl Acad Sci USA, 98, 3232–6.CrossRefPubMedGoogle Scholar
  53. 53.
    Wang WW, Spurdle AB, Kolachana P, Bove B, Modan B, Ebbers SM, Suthers G, Tucker MA, Kaufman DJ, Doody MM, Tarone RE, Daly M, Levavi H, Pierce H, Chetrit A, Yechezkel GH, Chenevix-Trench G, Offit K, Godwin AK and Struewing JP. (2001). Cancer Epidemiol Biomarkers Prev, 10, 955–60.PubMedGoogle Scholar
  54. 54.
    Kadouri L, Kote-Jarai Z, Hubert A, Durocher F, Abeliovich D, Glaser B, Hamburger T, Eeles RA and Peretz T. (2004). Br J Cancer, 90, 2002–5.CrossRefPubMedGoogle Scholar
  55. 55.
    Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, Edler L, Lubinski J, Scott RJ and Hamann U. (2007). Cancer Epidemiol Biomarkers Prev, 16, 270–5.CrossRefPubMedGoogle Scholar
  56. 56.
    Jakubowska A, Narod SA, Goldgar DE, Mierzejewski M, Masojc B, Nej K, Huzarska J, Byrski T, Gorski B and Lubinski J. (2003). Cancer Epidemiol Biomarkers Prev, 12, 457–9.PubMedGoogle Scholar
  57. 57.
    Gershoni-Baruch R, Dagan E, Israeli D, Kasinetz L, Kadouri E and Friedman E. (2000). Eur J Cancer, 36, 2313–6.CrossRefPubMedGoogle Scholar
  58. 58.
    Pepe C, Guidugli L, Sensi E, Aretini P, D’Andrea E, Montagna M, Manoukian S, Ottini L, Radice P, Viel A, Bevilacqua G and Caligo MA. (2007). Breast Cancer Res Treat, 103, 29–36.CrossRefPubMedGoogle Scholar
  59. 59.
    Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, Edler L, Lubinski J, Scott RJ and Hamann U. (2007). Breast Cancer Res Treat, 104, 299–308.CrossRefPubMedGoogle Scholar
  60. 60.
    Phelan CM, Rebbeck TR, Weber BL, Devilee P, Ruttledge MH, Lynch HT, Lenoir GM, Stratton MR, Easton DF, Ponder BA, Cannon-Albright L, Larsson C, Goldgar DE and Narod SA. (1996). Nat Genet, 12, 309–11.CrossRefPubMedGoogle Scholar
  61. 61.
    Weitzel JN, Ding S, Larson GP, Nelson RA, Goodman A, Grendys EC, Ball HG and Krontiris TG. (2000). Cancer Res, 60, 259–61.PubMedGoogle Scholar
  62. 62.
    Runnebaum IB, Wang-Gohrke S, Vesprini D, Kreienberg R, Lynch H, Moslehi R, Ghadirian P, Weber B, Godwin AK, Risch H, Garber J, Lerman C, Olopade OI, Foulkes WD, Karlan B, Warner E, Rosen B, Rebbeck T, Tonin P, Dube MP, Kieback DG and Narod SA. (2001). Pharmacogenetics, 11, 635–8.CrossRefPubMedGoogle Scholar
  63. 63.
    Pearce CL, Hirschhorn JN, Wu AH, Burtt NP, Stram DO, Young S, Kolonel LN, Henderson BE, Altshuler D and Pike MC. (2005). J Natl Cancer Inst, 97, 51–9.CrossRefPubMedGoogle Scholar
  64. 64.
    Ginolhac SM, Gad S, Corbex M, Bressac-De-Paillerets B, Chompret A, Bignon YJ, Peyrat JP, Fournier J, Lasset C, Giraud S, Muller D, Fricker JP, Hardouin A, Berthet P, Maugard C, Nogues C, Lidereau R, Longy M, Olschwang S, Toulas C, Guimbaud R, Yannoukakos D, Szabo C, Durocher F, Moisan AM, Simard J, Mazoyer S, Lynch HT, Goldgar D, Stoppa-Lyonnet D, Lenoir GM and Sinilnikova OM. (2003). Cancer Epidemiol Biomarkers Prev, 12, 90–5.PubMedGoogle Scholar
  65. 65.
    Hughes DJ, Ginolhac SM, Coupier I, Corbex M, Bressac-de-Paillerets B, Chompret A, Bignon YJ, Uhrhammer N, Lasset C, Giraud S, Hardouin A, Berthet P, Peyrat JP, Fournier J, Nogues C, Lidereau R, Muller D, Fricker JP, Longy M, Toulas C, Guimbaud R, Maugard C, Olschwang S, Yannoukakos D, Durocher F, Moisan AM, Simard J, Mazoyer S, Lynch HT, Szabo C, Lenoir GM, Goldgar DE, Stoppa-Lyonnet D and Sinilnikova OM. (2005). Cancer Epidemiol Biomarkers Prev, 14, 265–7.PubMedGoogle Scholar
  66. 66.
    Auranen A, Spurdle AB, Chen X, Lipscombe J, Purdie DM, Hopper JL, Green A, Healey CS, Redman K, Dunning AM, Pharoah PD, Easton DF, Ponder BA, Chenevix-Trench G and Novik KL. (2003). Int J Cancer, 103, 427–30.CrossRefPubMedGoogle Scholar
  67. 67.
    Healey CS, Dunning AM, Teare MD, Chase D, Parker L, Burn J, Chang-Claude J, Mannermaa A, Kataja V, Huntsman DG, Pharoah PD, Luben RN, Easton DF and Ponder BA. (2000). Nat Genet, 26, 362–4.CrossRefPubMedGoogle Scholar
  68. 68.
    Spurdle AB, Hopper JL, Chen X, Dite GS, Cui J, McCredie MR, Giles GG, Ellis-Steinborner S, Venter DJ, Newman B, Southey MC and Chenevix-Trench G. (2002). Cancer Epidemiol Biomarkers Prev, 11, 413–6.PubMedGoogle Scholar
  69. 69.
    The Breast Cancer Association Consortium. (2006). J Natl Cancer Inst 98, 1382–96.Google Scholar
  70. 70.
    Stacey SN, Sulem P, Johannsson OT, Helgason A, Gudmundsson J, Kostic JP, Kristjansson K, Jonsdottir T, Sigurdsson H, Hrafnkelsson J, Johannsson J, Sveinsson T, Myrdal G, Grimsson HN, Bergthorsson JT, Amundadottir LT, Gulcher JR, Thorsteinsdottir U, Kong A and Stefansson K. (2006). PLoS Med, 3, e217.CrossRefPubMedGoogle Scholar
  71. 71.
    Vahteristo P, Syrjakoski K, Heikkinen T, Eerola H, Aittomaki K, von Smitten K, Holli K, Blomqvist C, Kallioniemi OP and Nevanlinna H. (2006). Eur J Hum Genet, 14, 167–72.CrossRefPubMedGoogle Scholar
  72. 72.
    Jakubowska A, Gronwald J, Gorski B, Huzarski T, Byrski T, Benner A, Lubinski J, Scott RJ and Hamann U. (2007). Breast Cancer Res Treat, 104, 67–74.CrossRefPubMedGoogle Scholar
  73. 73.
    Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, Edler L, Lubinski J, Scott RJ and Hamann U. (2007). J Med Genet, 44, 408–11.CrossRefPubMedGoogle Scholar
  74. 74.
    Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, Edler L, Lubinski J, Scott RJ and Hamann U. (2007). Cancer Lett.Google Scholar
  75. 75.
    Gao B, Xie XJ, Huang C, Shames DS, Chen TT, Lewis CM, Bian A, Zhang B, Olopade OI, Garber JE, Euhus DM, Tomlinson GE and Minna JD. (2008). Cancer Res, 68, 22–5.CrossRefPubMedGoogle Scholar
  76. 76.
    Nathanson KL, Shugart YY, Omaruddin R, Szabo C, Goldgar D, Rebbeck TR and Weber BL. (2002). Hum Mol Genet, 11, 1327–32.CrossRefPubMedGoogle Scholar
  77. 77.
    Savelyeva L, Claas A, Gier S, Schlag P, Finke L, Mangion J, Stratton MR and Schwab M. (1998). Cancer Res, 58, 863–6.PubMedGoogle Scholar
  78. 78.
    Savelyeva L, Claas A, Matzner I, Schlag P, Hofmann W, Scherneck S, Weber B and Schwab M. (2001). Cancer Res, 61, 5179–85.PubMedGoogle Scholar
  79. 79.
    Antoniou AC, Sinilnikova OM, Simard J, Leone M, Dumont M, Neuhausen SL, Struewing JP, Stoppa-Lyonnet D, Barjhoux L, Hughes DJ, Coupier I, Belotti M, Lasset C, Bonadona V, Bignon YJ, Rebbeck TR, Wagner T, Lynch HT, Domchek SM, Nathanson KL, Garber JE, Weitzel J, Narod SA, Tomlinson G, Olopade OI, Godwin A, Isaacs C, Jakubowska A, Lubinski J, Gronwald J, Gorski B, Byrski T, Huzarski T, Peock S, Cook M, Baynes C, Murray A, Rogers M, Daly PA, Dorkins H, Schmutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Niederacher D, Deissler H, Spurdle AB, Chen X, Waddell N, Cloonan N, Kirchhoff T, Offit K, Friedman E, Kaufmann B, Laitman Y, Galore G, Rennert G, Lejbkowicz F, Raskin L, Andrulis IL, Ilyushik E, Ozcelik H, Devilee P, Vreeswijk MP, Greene MH, Prindiville SA, Osorio A, Benitez J, Zikan M, Szabo CI, Kilpivaara O, Nevanlinna H, Hamann U, Durocher F, Arason A, Couch FJ, Easton DF and Chenevix-Trench G. (2007). Am J Hum Genet, 81, 1186–200.Google Scholar
  80. 80.
    Antoniou A, Spurdle AB, Similnikova OM, Healey S, Pooley KA, Schutzler RK, Versmold B, Engel C, Meindl A, Arnold N, Hofmann W, Sutter C, Niederacher D, Deisler H, Caldes T, Kampjarvi K, Nevanlimna H, Simard J, Beesley J, Chen X, kConFab, Neuhausen SL, Rebbeck TR, Wagner T, Lynch HT, Isaacs C, Weitzel J, Ganz PA, Daly MB, Tomlinson G, Olopade OI, Blum JL, Couch FJ, Peterlongo P, Manoukian S, Barile M, Radice P, Szabo CI, Pereira LHM, Greene MH, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis I, Ozcelik H, OCGN, Gerdes A-M, Caligo MA, Laitman Y, Kaufmann B, Milgrom R, Friedman E, SWE-BRCA, Domchek SM, Nathanson KL, Osorio A, Llort G, Milne RL, Benitez J, Hamann U, Hogervorst FBL, M.A.R, Manders P, Ligtenberg MLJ, van den Ouweland AMW, Peock S, Cook M, Platte R, Evans DG, Eeles R, Pichert G, Chu G, Eccles D, Davidson R, Douglas F, EMBRACE, Godwin AK, Barjhoux L, Mazoyer S, Sobol H, Bourdon V, Eisinger F, Chompret A, Capoulade C, Bressac-de-Paillerets B, Lenoir GM, Gauthier-Villars M, Houdayer C, Stoppa-Lyonnet D, Chenevix-Trench G and Easton DF, CIMBA. (2008). Am J Hum Genet, 82, 937–48.Google Scholar
  81. 81.
    Zuker M. (2003). Nucleic Acids Res, 31, 3406–15.CrossRefPubMedGoogle Scholar
  82. 82.
    Davuluri RV, Suzuki Y, Sugano S and Zhang MQ. (2000). Genome Res, 10, 1807–16.CrossRefPubMedGoogle Scholar
  83. 83.
    Hughes TA. (2006). Trends Genet, 22, 119–22.CrossRefPubMedGoogle Scholar
  84. 84.
    Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD and Dunning A. (2002). Hum Mol Genet, 11, 1399–407.CrossRefPubMedGoogle Scholar
  85. 85.
    Webb PM, Hopper JL, Newman B, Chen X, Kelemen L, Giles GG, Southey MC, Chenevix-Trench G and Spurdle AB. (2005). Cancer Epidemiol Biomarkers Prev, 14, 319–23.CrossRefPubMedGoogle Scholar
  86. 86.
    Bodvarsdottir SK, Hilmarsdottir H, Birgisdottir V, Steinarsdottir M, Jonasson JG and Eyfjord JE. (2007). Cancer Lett, 248, 96–102.CrossRefPubMedGoogle Scholar
  87. 87.
    Cox DG, Hankinson SE and Hunter DJ. (2006). Cancer Causes Control, 17, 81–3.CrossRefPubMedGoogle Scholar
  88. 88.
    Dai Q, Cai QY, Shu XO, Ewart-Toland A, Wen WQ, Balmain A, Gao YT and Zheng W. (2004). Cancer Epidemiol Biomarkers Prev, 13, 2065–70.PubMedGoogle Scholar
  89. 89.
    Fletcher O, Johnson N, Palles C, dos Santos Silva I, McCormack V, Whittaker J, Ashworth A and Peto J. (2006). J Natl Cancer Inst, 98, 1014–8.CrossRefPubMedGoogle Scholar
  90. 90.
    Couch FJ, Sinilnikova O, Vierkant RA, Pankratz VS, Fredericksen ZS, Stoppa-Lyonnet D, Coupier I, Hughes D, Hardouin A, Berthet P, Peock S, Cook M, Baynes C, Hodgson S, Morrison PJ, Porteous ME, Jakubowska A, Lubinski J, Gronwald J, Spurdle AB, Schmutzler R, Versmold B, Engel C, Meindl A, Sutter C, Horst J, Schaefer D, Offit K, Kirchhoff T, Andrulis IL, Ilyushik E, Glendon G, Devilee P, Vreeswijk MP, Vasen HF, Borg A, Backenhorn K, Struewing JP, Greene MH, Neuhausen SL, Rebbeck TR, Nathanson K, Domchek S, Wagner T, Garber JE, Szabo C, Zikan M, Foretova L, Olson JE, Sellers TA, Lindor N, Nevanlinna H, Tommiska J, Aittomaki K, Hamann U, Rashid MU, Torres D, Simard J, Durocher F, Guenard F, Lynch HT, Isaacs C, Weitzel J, Olopade OI, Narod S, Daly MB, Godwin AK, Tomlinson G, Easton DF, Chenevix-Trench G and Antoniou AC. (2007). Cancer Epidemiol Biomarkers Prev, 16, 1416–21.CrossRefPubMedGoogle Scholar
  91. 91.
    Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, Fletcher O, Johnson N, Seal S, Stratton MR, Rahman N, Chenevix-Trench G, Bojesen SE, Nordestgaard BG, Axelsson CK, Garcia-Closas M, Brinton L, Chanock S, Lissowska J, Peplonska B, Nevanlinna H, Fagerholm R, Eerola H, Kang D, Yoo KY, Noh DY, Ahn SH, Hunter DJ, Hankinson SE, Cox DG, Hall P, Wedren S, Liu J, Low YL, Bogdanova N, Schurmann P, Dork T, Tollenaar RA, Jacobi CE, Devilee P, Klijn JG, Sigurdson AJ, Doody MM, Alexander BH, Zhang J, Cox A, Brock IW, MacPherson G, Reed MW, Couch FJ, Goode EL, Olson JE, Meijers-Heijboer H, van den Ouweland A, Uitterlinden A, Rivadeneira F, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Hopper JL, McCredie M, Southey M, Giles GG, Schroen C, Justenhoven C, Brauch H, Hamann U, Ko YD, Spurdle AB, Beesley J, Chen X, Mannermaa A, Kosma VM, Kataja V, Hartikainen J, Day NE, et al. (2007). Nature, 447, 1087–93.CrossRefPubMedGoogle Scholar
  92. 92.
    Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF, Jr., Hoover RN, Thomas G and Chanock SJ. (2007). Nat Genet, 39, 870–4.CrossRefPubMedGoogle Scholar
  93. 93.
    Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, Aben KK, Strobbe LJ, Albers-Akkers MT, Swinkels DW, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Godino J, Garcia-Prats MD, Polo E, Tres A, Mouy M, Saemundsdottir J, Backman VM, Gudmundsson L, Kristjansson K, Bergthorsson JT, Kostic J, Frigge ML, Geller F, Gudbjartsson D, Sigurdsson H, Jonsdottir T, Hrafnkelsson J, Johannsson J, Sveinsson T, Myrdal G, Grimsson HN, Jonsson T, von Holst S, Werelius B, Margolin S, Lindblom A, Mayordomo JI, Haiman CA, Kiemeney LA, Johannsson OT, Gulcher JR, Thorsteinsdottir U, Kong A and Stefansson K. (2007). Nat Genet, 39, 865–9.CrossRefPubMedGoogle Scholar
  94. 94.
    Garcia-Closas M, Hall P, Nevanlinna H, Pooley K, Morrison J, Richesson D, Bojesen SE, Nordestgaard BG, Axelsson CK, Arias JI, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Zamora P, Brauch H, Justenhoven C, Hamann U, Ko Y-D, Bruening T, Haas S, Dork T, Schurmann P, Hillemanns P, Borddanova N, Bremer M, Karstens JH, Fagerholm R, Aaltonen K, Aittomaki K, von Smitte K, Blomqvist C, Mannermaa A, Uusitupa M, Eskelinin M, Tengstrom M, Kosma V-M, Kataja V, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Group AOCS, Cancer TKCFfRiFB, Devilee P, van Asperen C, Jacobi CE, Tollenaar RAEM, Huijts P, Klign J, Chang-Claude J, Kropp S, Slanger T, Flesch-Janys D, Mutschelknauss E, Salazar R, Wang-Gohrke S, Couch F, Goode E, Olsen JE, Vachon C, Frederiicksen ZS, Giles GG, Baglietto S, Severi G, Hopper JL, English DR, Southey MC, Haiman C, Henderson BE, Kolonel LN, Le Marchand L, Stram DO, Hunter DJ, Handkinson SE, Cox DG, Tamini R, Kraft P, Sherman M, Chanock S, Lissowska J, Brinton L, Peplonska B, Klijn J, Hooning M, Meigjers-Heijboer H, Collee JM, van den Ouweland A, Uitterlinden A, Liu J, Lin LY, Yuqing L, Humphreys K, Czene K, Cox A, Balasubramanian SP, Cross SS, Reed MWR, Blows F, Driver K, et al. (2008). PLOS Genet, 4, e1000054.Google Scholar
  95. 95.
    Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, Bishop T, Benitez J, Rivas C, Bignon YJ, Chang-Claude J, Hamann U, Cornelisse CJ, Devilee P, Beckmann MW, Nestle-Kramling C, Daly PA, Haites N, Varley J, Lalloo F, Evans G, Maugard C, Meijers-Heijboer H, Klijn JG, Olah E, Gusterson BA, Pilotti S, Radice P, Scherneck S, Sobol H, Jacquemier J, Wagner T, Peto J, Stratton MR, McGuffog L and Easton DF. (2005). Clin Cancer Res, 11, 5175–80.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  1. 1.Queensland Institute of Medical ResearchRBH Post OfficeHerstonAustralia
  2. 2.Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary CareUniversity of Cambridge, Strangeways Research Laboratory, Worts CausewayCambridgeUK

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