Skip to main content

Advertisement

Log in

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)—mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM, there are less developed guidelines after RRM. We evaluated the schemes offered before and after RRS in internationally diverse high-risk clinics. An e-mailed survey was distributed to high-risk clinics affiliated with CIMBA. Overall, 22 centers from 16 countries responded. Pre RRS surveillance schemes overwhelmingly included breast imaging (primarily MRI) from 18 to 30 years and clinical breast exam (CBE) at 6–12 month intervals. For ovarian cancer, all but 6 centers offered semiannual/annual gynecological exam, transvaginal ultrasound, and CA 125 measurements. Post RRM, most centers offered only annual CBE while 4 centers offered annual MRI, primarily for substantial residual breast tissue. After RRSO only 4 centers offered specific gynecological surveillance. Existing guidelines for breast/ovarian cancer detection in BRCA carriers are being applied pre RRS but are not globally harmonized, and most centers offer no specific surveillance post RRS. From this comprehensive multinational study it is clear that evidence-based, long-term prospective data on the most effective scheme for BRCA carriers post RRS is needed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Nelson HD, Pappas M, Zakher B, Mitchell JP, Okinaka-Hu L, Fu R (2014) Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med 160(4):255–266

    Article  PubMed  Google Scholar 

  2. Armstrong AC, Evans DG (2014) Management of women at high risk of breast cancer. BMJ 348:g2756. doi:10.1136/bmj.g2756

    Article  PubMed  Google Scholar 

  3. Marchetti C, De Felice F, Palaia I, Perniola G, Musella A, Musio D et al (2014) Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers. BMC Women’s Health 14:150–157. doi:10.1186/s12905-014-0150-5

    Article  PubMed  PubMed Central  Google Scholar 

  4. Walker JL, Powell CB, Chen LM, Carter J, Bae Jump VL, Prker LP et al (2015) Society of gynecologic oncology recommendations for the prevention of ovarian cancer. Cancer 121:2108–2120. doi:10.1002/cncr.29321

    Article  PubMed  Google Scholar 

  5. Kramer JL, Velazquez IA, Chen BE, Rosenberg PS, Struewing JP, Greene MH (2005) Prophylactic oophorectomy reduces breast cancer penetrance during prospective, long-term follow-up of BRCA1 mutation carriers. J Clin Oncol 23(34):8629–8635

    Article  PubMed  Google Scholar 

  6. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C et al (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975. doi:10.1001/jama.2010.1237

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Finch AP, Lubinski J, Møller P, Singer CF, Karlan B, Senter L et al (2014) Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 32(15):1547–1553. doi:10.1200/JCO.2013.53.2820

    Article  PubMed  PubMed Central  Google Scholar 

  8. Heemskerk-Gerritsen BA, Seynaeve C, van Asperen CJ, Ausems MG, Collée JM, van Doorn HC et al (2015) Hereditary Breast and Ovarian Cancer Research Group Netherlands. Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction. J Natl Cancer. doi:10.1093/jnci/djv033

    Google Scholar 

  9. Pruthi S, Heisey RE, Bevers TB (2015) Chemoprevention for breast cancer. Ann Surg Oncol 22(10):3230–3235. doi:10.1245/s10434-015-4715-9

    Article  PubMed  PubMed Central  Google Scholar 

  10. Chai X, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C et al (2014) Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 148(2):397–406. doi:10.1007/s10549-014-3134-0

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Rebbeck TR, Kauff ND, Domchek SM (2009) Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101(2):80–87. doi:10.1093/jnci/djn442

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS et al (2012) Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol 30(12):1321–1328. doi:10.1200/JCO.2011.37.8133

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Ponder BA (1994) Setting up and running a familial cancer clinic. Br Med Bull 50(3):732–745

    CAS  PubMed  Google Scholar 

  14. Bancroft EK, Locke I, Ardern-Jones A, D’Mello L, McReynolds K, Lennard F et al (2010) The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers–implications for oncogenetics practice. J Med Genet 47(7):486–491. doi:10.1136/jmg.2009.072728

    Article  CAS  PubMed  Google Scholar 

  15. Pichert G, Jacobs C, Jacobs I, Menon U, Manchanda R, Johnson M et al (2010) Novel one-stop multidisciplinary follow-up clinic significantly improves cancer risk management in BRCA1/2 carriers. Fam Cancer 9(3):313–319. doi:10.1007/s10689-010-9333-x

    Article  CAS  PubMed  Google Scholar 

  16. Knuttel FM, Menezes GL, van den Bosch MA, Gilhuijs KG, Peters NH (2014) Current clinical indications for magnetic resonance imaging of the breast. J Surg Oncol 110(1):26–31. doi:10.1002/jso.23655

    Article  PubMed  Google Scholar 

  17. Bick U (2015) Intensified surveillance for early detection of breast cancer in high-risk patients. Breast Care (Basel) 10(1):13–20. doi:10.1159/000375390

    Article  Google Scholar 

  18. Mann RM, Balleyguier C, Baltzer PA, Bick U, Colin C, Cornford E et al, European Society of Breast Imaging (EUSOBI) (2015) The European Breast Cancer Coalition. Breast MRI: EUSOBI recommendations for women’s information. Eur Radiol 25(12):3669–3678. doi:10.1007/s00330-015-3807-z

  19. Cott Chubiz JE, Lee JM, Gilmore ME, Kong CY, Lowry KP, Halpern EF et al (2013) Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers. Cancer 119(6):1266–1276. doi:10.1002/cncr.27864

    Article  PubMed  PubMed Central  Google Scholar 

  20. Plevritis SK, Kurian AW, Sigal BM, Daniel BL, Ikeda DM, Stockdale FE et al (2006) Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA 295(20):2374–2384

    Article  CAS  PubMed  Google Scholar 

  21. Pijpe A, Andrieu N, Easton DF, Kesminiene A, Cardis E, Noguès C, et al, GENEPSO; EMBRACE; HEBON (2012) Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ 345:e5660. doi:10.1136/bmj.e5660

  22. Haffty BG, Lee C (2013) Exposure to diagnostic levels of radiation prior to age 30 increases the risk of breast cancer in BRCA1/2 carriers. Evid Based Med 18(4):e40. doi:10.1136/eb-2012-101075

    Article  PubMed  Google Scholar 

  23. Giannakeas V, Lubinski J, Gronwald J, Moller P, Armel S, Lynch HT et al (2014) Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study. Breast Cancer Res Treat 147(1):113–118. doi:10.1007/s10549-014-3063-y

    Article  CAS  PubMed  Google Scholar 

  24. Riedl CC, Luft N, Bernhart C, Weber M, Bernathova M, Tea MK et al (2015) 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 33(10):1128–1135. doi:10.1200/JCO.2014.56.8626

    Article  PubMed  Google Scholar 

  25. Menon U, Ryan A, Kalsi J, Gentry-Maharaj A, Dawnay A, Habib M et al (2015) Risk algorithm using serial biomarker measurements doubles the number of screen-detected cancers compared with a single-threshold rule in the United Kingdom collaborative trial of ovarian cancer screening. J Clin Oncol 33(18):2062–2071. doi:10.1200/JCO.2014.59.4945

    Article  PubMed  Google Scholar 

  26. Jacobs IJ, Menon U, Ryan A, Gentry-Maharaj A, Burnell M, Kalsi JK et al (2015) Ovarian cancer screening and mortality in the UK collaborative trial of ovarian cancer screening (UKCTOCS): a randomised controlled trial. Lancet S0140–6736(15):1224–1226. doi:10.1016/S0140-6736(15)01224-6

    Google Scholar 

  27. Greene MH, Piedmonte M, Alberts D, Gail M, Hensley M, Miner Z et al (2008) A prospective study of risk-reducing salpingo-oophorectomy and longitudinal CA-125 screening among women at increased genetic risk of ovarian cancer: design and baseline characteristics: a Gynecologic Oncology Group study. Cancer Epidemiol Biomarkers Prev 17(3):594–604. doi:10.1158/1055-9965.EPI-07-2703

    Article  PubMed  PubMed Central  Google Scholar 

  28. Heemskerk-Gerritsen BA, Menke-Pluijmers MB, Jager A, Tilanus-Linthorst MM, Koppert LB, Obdeijn IM et al (2013) Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis. Ann Oncol 24(8):2029–2035. doi:10.1093/annonc/mdt134

    Article  CAS  PubMed  Google Scholar 

  29. Singer CF, Tea MK, Pristauz G, Hubalek M, Rappaport C, Riedl CC et al (2015) Clinical Practice Guideline for the prevention and early detection of breast and ovarian cancer in women from HBOC (hereditary breast and ovarian cancer) families. Wien Klin Wochenschr 127(23–24):981–986. doi:10.1007/s00508-015-0880-x

    Article  CAS  PubMed  Google Scholar 

  30. Robays J, Stordeur S, Hulstaert F (2015) Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, Li-Fraumeni syndrome and Cowden syndrome. Good clinical practice (GCP) Brussels: Belgian Health Care Knowledge Centre (KCE). KCE reports 236. https://kce.fgov.be/sites/default/files/page_documents/KCE_236_oncogenetictesting_Report.pdf

  31. Meindl A, Ditsch N, Kast K, Rhiem K, Schmutzler RK (2011) Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch Arztebl Int 108(19):323–330

    PubMed  PubMed Central  Google Scholar 

  32. Llort G, Chirivella I, Morales R, Serrano R, Sanchez AB, Teulé A et al (2015) SEOM Hereditary Cancer Working Group.- SEOM clinical guidelines in Hereditary breast and ovarian cancer. Clin Transl Oncol 17(12):956–961. doi:10.1007/s12094-015-1435-3

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgments

None.

Author declaration

All Authors declare that they do not have a financial relationship with the organization that sponsored the research, as this research project was not supported or funded by any organization.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Eitan Friedman.

Ethics declarations

Conflict of interest

All authors declare that they have no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Madorsky-Feldman, D., Sklair-Levy, M., Perri, T. et al. An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 157, 319–327 (2016). https://doi.org/10.1007/s10549-016-3805-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-016-3805-0

Keywords

Navigation