Wiener klinische Wochenschrift

, Volume 127, Issue 23–24, pp 981–986 | Cite as

Clinical Practice Guideline for the prevention and early detection of breast and ovarian cancer in women from HBOC (hereditary breast and ovarian cancer) families

  • C.F. Singer
  • M.K. Tea
  • G. Pristauz
  • M. Hubalek
  • C. Rappaport
  • C.C. Riedl
  • T.H. Helbich
position paper


An estimated 10 % of breast cancer cases exhibit a higher familial incidence, and functional mutations in BRCA (breast cancer-gene) 1 or 2 are responsible for the development of malignant tumors in approximately half of these cases. Women with a germline mutation in either of the two genes have a lifetime risk of up to 85 % to develop breast cancer, and of up to 60 % risk to develop ovarian cancer. This clinical practice guideline defines the individual and familial tumor constellations that represent an indication for BRCA germline testing. It also describes the therapeutic options (early detection programme vs prophylactic surgery) that arise from the result of a BRCA mutational analysis. This guideline further includes recommendations regarding the use of multigene panels and therapeutic aspects that arise from the selective use of poly ADP ribose polymerase (PARP) inhibitors in patients with known BRCA1 or 2 mutations. It replaces the previous version of the “Clinical Practice Guideline for the Prevention and Early Detection of Breast- and Ovarian Cancer in women from HBOC (hereditary breast and ovarian cancer) families” which was published in 2012.


BRCA Hereditary Breast and Ovarian Cancer PBSO PBM 


  1. 1.
    Jatoi I, Anderson WF. Management of women who have a genetic predisposition for breast cancer. Surg Clin North Am. 2008;88(4):845–61.CrossRefPubMedGoogle Scholar
  2. 2.
    Sardanelli F, Podo F. Management of an inherited predisposition to breast cancer. N Engl J Med. 2007;357(16):1663.CrossRefPubMedGoogle Scholar
  3. 3.
    Sardanelli F, Podo F. Breast MR imaging in women at high-risk of breast cancer. Is something changing in early breast cancer detection? Eur Radiol. 2007;17(4):873–87.CrossRefPubMedGoogle Scholar
  4. 4.
    Warner E, Plewes DB, Hill KA, Causer PA, Zubovits JT, Jong RA, Cutrara MR, DeBoer G, Yaffe MJ, Messner SJ, Meschino WS, Piron CA, Narod SA. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA. 2004;292(11):1317–25.CrossRefPubMedGoogle Scholar
  5. 5.
    Riedl CC, Ponhold L, Flöry D, Weber M, Kroiss R, Wagner T, Fuchsjäger M, Helbich TH. Magnetic resonance imaging of the breast improves detection of invasive cancer, preinvasive cancer, and premalignant lesions during surveillance of women at high risk for breast cancer. Clin Cancer Res. 2007;13(20):6144–52.CrossRefPubMedGoogle Scholar
  6. 6.
    Riedl CC, Luft N, Bernhart C, Weber M, Bernathova M, Tea MK, Rudas M, Singer CF Helbich TH. Triple-modality screening trial for familial breast cancer underlines the importance of magnetic resonance imaging and questions the role of mammography and ultrasound regardless of patient mutation status, age, and breast density. J Clin Oncol. 2015;33(10):1128–35.CrossRefPubMedGoogle Scholar
  7. 7.
    Kriege M, Brekelmans CT, Obdeijn IM, Boetes C, Zonderland HM, Muller SH, Kok T, Manoliu RA, Besnard AP, Tilanus-Linthorst MM, Seynaeve C, Bartels CC, Kaas R, Meijer S, Oosterwijk JC, Hoogerbrugge N, Tollenaar RA, Rutgers EJ, de Koning HJ, Klijn JG. Factors affecting sensitivity and specificity of screening mammography and MRI in women with an inherited risk for breast cancer. Breast Cancer Res Treat. 2006;100(1):109–19.CrossRefPubMedGoogle Scholar
  8. 8.
    Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, Van t’veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304(9):967–75.PubMedCentralCrossRefPubMedGoogle Scholar
  9. 9.
    Kauff ND, Domchek SM, Friebel TM, Robson ME, Lee J, Garber JE, Isaacs C, Evans DG, Lynch H, Eeles RA, Neuhausen SL, Daly MB, Matloff E, Blum JL, Sabbatini P, Barakat RR, Hudis C, Norton L, Offit K, Rebbeck TR. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol. 2008;26(8):1331–7.PubMedCentralCrossRefPubMedGoogle Scholar
  10. 10.
    Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, Olopade OI, Eisen A, Weber B, McLennan J, Sun P, Foulkes WD, Narod SA. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2004;22(12):2328–35.CrossRefPubMedGoogle Scholar
  11. 11.
    Lostumbo L, Carbine NE, Wallace J. Prophylactic mastectomy for the prevention of breast cancer. Cochrane Database Syst Rev. 2010;10(11):CD002748.Google Scholar
  12. 12.
    Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van ’t VL, Garber JE, Evans GR, Narod SA, Isaacs C, Matloff E, Daly MB, Olopade OI, Weber BL. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22(6):1055–62.CrossRefPubMedGoogle Scholar
  13. 13.
    Molina-Montes E, Pérez-Nevot B, Pollán M, Sánchez-Cantalejo E, Espín J, Sánchez MJ. Cumulative risk of second primary contralateral breast cancer in BRCA1/2 mutation carrier with a first breast cancer: a systematic review and meta-analysis. Breast. 2014;23:721–42.CrossRefPubMedGoogle Scholar
  14. 14.
    Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, Ausems MG, Collée JM, Jansen L, Kets CM, Keymeulen KB, Koppert LB, Meijers-Heijboer HE, Mooij TM, Tollenaar RA, Vasen HF; HEBON, Hooning MJ, Seynaeve C. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: A prospective analysis. Int J Cancer. 2015;136:668–77.PubMedGoogle Scholar
  15. 15.
    Metcalfe KA. Oophorectomy for breast cancer prevention in women with BRCA1 or BRCA2 mutations. Womens Health (Lond Engl). 2009;5(1):63–8.CrossRefGoogle Scholar
  16. 16.
    Finch AP, Lubinski J, Møller P, Singer CF, Karlan B, Senter L, Rosen B, Maehle L, Ghadirian P, Cybulski C, Huzarski T, Eisen A, Foulkes WD, Kim-Sing C, Ainsworth P, Tung N, Lynch HT, Neuhausen S, Metcalfe KA, Thompson I, Murphy J, Sun P, Narod SA. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547–53.PubMedCentralCrossRefPubMedGoogle Scholar
  17. 17.
    Balmaña J, Díez O, Castiglione M; ESMO Guidelines Working Group. BRCA in breast cancer: ESMO clinical recommendations. Ann Oncol. 2009;20(Suppl 4):19– 2.PubMedGoogle Scholar
  18. 18.
    ACOG and SGO Practice Bulletin. Hereditary breast an ovarian syndrome. Am J Obstet Gynecol. 2009;113:957– 65.Google Scholar
  19. 19.
    Horsman D, Wilson BJ, Avard D, Meschino WS, Kim Sing C, Plante M, Eisen A, Howley HE, Simard J; National Hereditary Cancer Task Force. Clinical management recommendations for surveillance and risk-reduction strategies for hereditary breast and ovarian cancer among individuals carrying a deleterious BRCA1 or BRCA2 mutation. J Obstet Gynaecol Can. 2007;29(1):45–60.PubMedGoogle Scholar
  20. 20.
    20. Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, Morris E, Pisano E, Schnall M, Sener S, Smith RA, Warner E, Yaffe M, Andrews KS, Russell CA; American Cancer Society Breast Cancer Advisory Group. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57(2):75–89.CrossRefPubMedGoogle Scholar
  21. 21.

Copyright information

© Springer-Verlag Wien 2015

Authors and Affiliations

  • C.F. Singer
    • 1
  • M.K. Tea
    • 1
  • G. Pristauz
    • 2
  • M. Hubalek
    • 3
  • C. Rappaport
    • 1
  • C.C. Riedl
    • 4
  • T.H. Helbich
    • 4
  1. 1.Gynecological OncologyMedical University of Vienna, Department of Gynaecology, Comprehensive Cancer CenterViennaAustria
  2. 2.Department of Obstetrics and GynecologyMedical University of GrazGrazAustria
  3. 3.Department of Obstetrics and GynecologyMedical University of InnsbruckInnsbruckAustria
  4. 4.Department of RadiologyMedical University of ViennaViennaAustria

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