Skip to main content
Log in

Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer

  • Surgical Symposium Contribution
  • Published:
World Journal of Surgery Aims and scope Submit manuscript

Abstract

Background

The first aim of our study was to evaluate surgical decision-making by BRCA mutation carriers with breast cancer based on the timing of knowledge of their BRCA mutation status. The second aim was to evaluate breast cancer outcome following surgical treatment.

Methods

This was a retrospective study of 164 patients diagnosed with invasive breast cancer, tested for BRCA mutation, and treated with primary surgery between 2004 and 2015 at Samsung Medical Center in Seoul, Korea. We reviewed types of surgery and timing of the BRCA test result. We compared surgical decision- making of BRCA carriers with breast cancer based on the timing of knowledge of their BRCA mutation status.

Results

Only 15 (9.1%) patients knew their BRCA test results before their surgery, and 149 (90.9%) knew the results after surgery. In patients with unilateral cancer, there was a significant difference between groups whose BRCA mutation status known before surgery and groups whose BRCA status unknown before surgery regarding the choice of surgery (p = 0.017). No significant difference was observed across surgery types of risk of ipsilateral breast tumor recurrence (p = 0.765) and contralateral breast cancer (p = 0.69).

Conclusion

Genetic diagnosis before surgery has an impact on surgical decision choosing unilateral mastectomy or bilateral mastectomy in BRCA mutation carriers with breast cancer. Knowledge about BRCA mutation status after initial surgery led to additional surgeries for patients with BCS. Thus, providing genetic counseling and genetic testing before surgical choice and developing treatment strategies for patients with a high risk of breast cancer are important.

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

Access this article

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

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Kang E, Seong MW, Park SK et al (2015) The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. Breast Cancer Res Treat 151:157–168

    Article  CAS  PubMed  Google Scholar 

  2. Valachis A, Nearchou AD, Lind P (2014) Surgical management of breast cancer in BRCA-mutation carriers: a systematic review and meta-analysis. Breast Cancer Res Treat 144:443–455

    Article  CAS  PubMed  Google Scholar 

  3. Molina-Montes E, Pérez-Nevot B, Pollán M et al (2014) Cumulative risk of second primary contralateral breast cancer in BRCA1/BRCA2 mutation carriers with a first breast cancer: a systematic review and meta-analysis. Breast 23:721–742

    Article  PubMed  Google Scholar 

  4. Metcalfe K, Lynch HT, Ghadirian P et al (2011) Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 127:287–296

    Article  CAS  PubMed  Google Scholar 

  5. Garcia-Etienne CA, Barile M, Gentilini OD et al (2009) Breast-conserving surgery in BRCA1/2 mutation carriers: are we approaching an answer? Ann Surg Oncol 16:3380–3387

    Article  PubMed  Google Scholar 

  6. Lokich E, Stuckey A, Raker C et al (2014) Preoperative genetic testing affects surgical decision making in breast cancer patients. Gynecol Oncol 134:326–330

    Article  PubMed  Google Scholar 

  7. Weitzel JN, McCaffrey SM, Nedelcu R et al (2003) Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg 138:1323–1328 (discussion 1329)

    Article  PubMed  Google Scholar 

  8. Pierce LJ, Phillips K-A, Griffith KA et al (2010) Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy. Breast Cancer Res Treat 121:389–398

    Article  PubMed  PubMed Central  Google Scholar 

  9. Brekelmans CT, Tilanus-Linthorst MM, Seynaeve C et al (2007) Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases. Eur J Cancer 43:867–876

    Article  CAS  PubMed  Google Scholar 

  10. van Sprundel TC, Schmidt MK, Rookus MA et al (2005) Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br J Cancer 93:287–292

    Article  PubMed  PubMed Central  Google Scholar 

  11. Evans DG, Ingham SL, Baildam A et al (2013) Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer. Breast Cancer Res Treat 140:135–142

    Article  CAS  PubMed  Google Scholar 

  12. Schwartz MD, Lerman C, Brogan B et al (2004) Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol 22:1823–1829

    Article  PubMed  Google Scholar 

  13. Evans DG, Lalloo F, Hopwood P et al (2005) Surgical decisions made by 158 women with hereditary breast cancer aged <50 years. Eur J Surg Oncol 31:1112–1118

    Article  CAS  PubMed  Google Scholar 

  14. Chiba A, Hoskin TL, Hallberg EJ et al (2016) Impact that timing of genetic mutation diagnosis has on surgical decision making and outcome for BRCA1/BRCA2 mutation carriers with breast cancer. Ann Surg Oncol 23:3232–3238

    Article  PubMed  PubMed Central  Google Scholar 

  15. Yi M, Hunt KK, Arun BK et al (2010) Factors affecting the decision of breast cancer patients to undergo contralateral prophylactic mastectomy. Cancer Prev Res 3:1026–1034

    Article  Google Scholar 

  16. Yadav S, Reeves A, Campian S et al (2017) Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis. Hered Cancer Clin Pract 15:11

    Article  PubMed  PubMed Central  Google Scholar 

  17. Giuliano AE, Boolbol S, Degnim A et al (2007) Society of Surgical Oncology: position statement on prophylactic mastectomy. Approved by the Society of Surgical Oncology Executive Council, March 2007. Ann Surg Oncol 14:2425–2427

    Article  PubMed  Google Scholar 

  18. Paluch-Shimon S, Cardoso F, Sessa C et al (2016) Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Ann Oncol 27:v103–v110

    Article  CAS  PubMed  Google Scholar 

  19. Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM et al (2015) 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 136:668–677

    CAS  PubMed  Google Scholar 

  20. Metcalfe K, Gershman S, Ghadirian P et al (2014) Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ 348:g226

    Article  PubMed  PubMed Central  Google Scholar 

  21. Trainer AH, Lewis CR, Tucker K et al (2010) The role of BRCA mutation testing in determining breast cancer therapy. Nat Rev Clin Oncol 7:708–717

    Article  CAS  PubMed  Google Scholar 

  22. Quinn VF, Meiser B, Kirk J et al (2017) Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial. Genet Med 19:448–456

    Article  PubMed  Google Scholar 

  23. Han SA, Park SK, Ahn SH et al (2011) The Korean Hereditary Breast Cancer (KOHBRA) study: protocols and interim report. Clin Oncol (R Coll Radiol) 23:434–441

    Article  Google Scholar 

  24. Cheung EL, Olson AD, Yu TM et al (2010) Communication of BRCA results and family testing in 1,103 high-risk women. Cancer Epidemiol Biomarkers Prev 19:2211–2219

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Nakamura S, Kwong A, Kim SW et al (2016) Current status of the management of hereditary breast and ovarian cancer in Asia: first report by the Asian BRCA consortium. Public Health Genomics 19:53–60

    Article  PubMed  Google Scholar 

  26. Yoon HY, Shim JS, Lee JW (2016) Perceptions of prophylactic mastectomy in Korea. Arch Plast Surg 43(1):53–58. https://doi.org/10.5999/aps.2016.43.1.53

    Article  PubMed  PubMed Central  Google Scholar 

  27. Evans DG, Wisely J, Clancy T et al (2015) Longer term effects of the Angelina Jolie effect: increased risk-reducing mastectomy rates in BRCA carriers and other high-risk women. Breast Cancer Res 17:143

    Article  PubMed  PubMed Central  Google Scholar 

  28. Lee J, Kim S, Kang E et al (2017) Influence of the Angelina Jolie announcement and insurance reimbursement on practice patterns for hereditary breast cancer. J Breast Cancer 20:203–207

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

The study was approved by the Institutional Review Board of the Samsung Medical Center, Seoul, Korea (Approval Numbers: 2017-01-142).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Jeong Eon Lee.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest in this manuscript, including financial, consultant, institutional, or other relationships that might lead to bias.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Park, S., Lee, J.E., Ryu, J.M. et al. Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer. World J Surg 42, 1384–1390 (2018). https://doi.org/10.1007/s00268-017-4342-7

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00268-017-4342-7

Navigation