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01-05-2018 | Surgical Symposium Contribution

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

Authors: Sungmin Park, Jeong Eon Lee, Jai Min Ryu, Issac Kim, Soo Youn Bae, Se Kyung Lee, Jonghan Yu, Seok Won Kim, Seok Jin Nam

Published in: World Journal of Surgery | Issue 5/2018

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.

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 151:157–168CrossRefPubMed

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 144:443–455CrossRefPubMed

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 23:721–742CrossRefPubMed

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

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 16:3380–3387CrossRefPubMed

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

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) CrossRefPubMed

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 121:389–398CrossRefPubMedPubMedCentral

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 43:867–876CrossRefPubMed

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 93:287–292CrossRefPubMedPubMedCentral

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 140:135–142CrossRefPubMed

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 22:1823–1829CrossRefPubMed

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 31:1112–1118CrossRefPubMed

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 23:3232–3238CrossRefPubMedPubMedCentral

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 3:1026–1034CrossRef

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 15:11CrossRefPubMedPubMedCentral

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 14:2425–2427CrossRefPubMed

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–v110CrossRefPubMed

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 136:668–677PubMed

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:g226CrossRefPubMedPubMedCentral

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 7:708–717CrossRefPubMed

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 19:448–456CrossRefPubMed

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) 23:434–441CrossRef

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 19:2211–2219CrossRefPubMedPubMedCentral

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 19:53–60CrossRefPubMed

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 CrossRefPubMedPubMedCentral

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 17:143CrossRefPubMedPubMedCentral

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 20:203–207CrossRefPubMedPubMedCentral

Title: Genetic Diagnosis before Surgery has an Impact on Surgical Decision in BRCA Mutation Carriers with Breast Cancer
Authors: Sungmin Park
Jeong Eon Lee
Jai Min Ryu
Issac Kim
Soo Youn Bae
Se Kyung Lee
Jonghan Yu
Seok Won Kim
Seok Jin Nam
Publication date: 01-05-2018
Publisher: Springer International Publishing
Published in: World Journal of Surgery / Issue 5/2018
Print ISSN: 0364-2313
Electronic ISSN: 1432-2323
DOI: https://doi.org/10.1007/s00268-017-4342-7

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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