Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations

  • Hong, Woo-Sung (Department of Surgery, Ajou University School of Medicine) ;
  • Kim, Ku-Sang (Department of Surgery, Ajou University School of Medicine) ;
  • Jung, Yong-Sik (Department of Surgery, Ajou University School of Medicine) ;
  • Kang, Seok-Yun (Department of Hematology - Oncology, Ajou University School of Medicine) ;
  • Kang, Doo-Kyoung (Department of Radiology, Ajou University School of Medicine) ;
  • Kim, Tae-Hee (Department of Radiology, Ajou University School of Medicine) ;
  • Yim, Hyunee (Department of Pathology, Ajou University School of Medicine) ;
  • Chun, Mi-Son (Department of Radiation Oncology, Ajou University School of Medicine) ;
  • Park, Myong-Chul (Department of Plastic and Reconstructive Surgery, Ajou University School of Medicine) ;
  • Chang, Suk-Joon (Department of Obstetrics and Gynecology, Ajou University School of Medicine)
  • Received : 2012.03.10
  • Accepted : 2012.05.16
  • Published : 2012.06.30
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Abstract

Among the treatment options for BRCA mutation carriers, risk reducing surgery is the most effective. However, this procedure has been rarely performed in Korea. Interestingly, our case showed double heterozygosity for BRCA1 and BRCA2 mutations. The patient was diagnosed with left renal cancer and left breast cancer at 45-years-of-age, 4 years before risk reducing surgery. The patient received left radical nephrectomy and left partial mastectomy with axillary lymph node dissection. After pretest counseling, the patient underwent genetic testing that identified BRCA1 and BRCA2 mutations. After post-test counseling, the patient decided on intensive surveillance. At 49-years-of-age, the patient was newly diagnosed with contralateral breast cancer. Treatment options were discussed once again. We performed bilateral total mastectomy with immediate reconstruction and prophylactic bilateral salpingo-oophorectomy after multidisciplinary discussion. The patient has been satisfied with the results of surgery. We think this procedure is a recommendable treatment option for BRCA mutation carriers.

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References

  1. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van't Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004;22:1055-62. https://doi.org/10.1200/JCO.2004.04.188
  2. van Roosmalen MS, Verhoef LC, Stalmeier PF, Hoogerbrugge N, van Daal WA. Decision analysis of prophylactic surgery or screening for BRCA1 mutation carriers: a more prominent role for oophorectomy. J Clin Oncol 2002;20:2092-100. https://doi.org/10.1200/JCO.2002.08.035
  3. Grann VR, Jacobson JS, Whang W, Hershman D, Heitjan DF, Antman KH, et al. Prevention with tamoxifen or other hormones versus prophylactic surgery in BRCA1/2-positive women: a decision analysis. Cancer J Sci Am 2000;6:13-20.
  4. Kim KS, Kim S, Han SA, Kang E, Jeon YT, Ha TH, et al. Contralateral prophylactic mastectomy and prophylactic salphingo-oophorectomy in a BRCA1-positive breast cancer patient: A case report. J Breast Cancer 2008;11:218-22. https://doi.org/10.4048/jbc.2008.11.4.218
  5. Leegte B, van der Hout AH, Deffenbaugh AM, Bakker MK, Mulder IM, ten Berge A, et al. Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations. J Med Genet 2005;42:e20. https://doi.org/10.1136/jmg.2004.027243
  6. Noh JM, Choi DH, Nam SJ, Lee JE, Kim JW, Kim SW, et al. Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients. Breast Cancer Res Treat 2012;131:217-22. https://doi.org/10.1007/s10549-011-1718-5
  7. Zuradelli M, Peissel B, Manoukian S, Zaffaroni D, Barile M, Pensotti V, et al. Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics. Breast Cancer Res Treat 2010;124:251-8. https://doi.org/10.1007/s10549-010-0853-8
  8. Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, et al. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. Lancet 2002;359:1471-7. https://doi.org/10.1016/S0140-6736(02)08434-9
  9. Garcia-Etienne CA, Barile M, Gentilini OD, Botteri E, Rotmensz N, Sagona A, et al. Breast-conserving surgery in BRCA1/2 mutation carriers: are we approaching an answer? Ann Surg Oncol 2009;16:3380-7. https://doi.org/10.1245/s10434-009-0638-7
  10. Seynaeve C, Verhoog LC, van de Bosch LM, van Geel AN, Menke-Pluymers M, Meijers-Heijboer EJ, et al. Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy. Eur J Cancer 2004;40:1150-8 https://doi.org/10.1016/j.ejca.2004.01.017
  11. Zhou WB, Liu XA, Dai JC, Wang S. Meta-analysis of sentinel lymph node biopsy at the time of prophylactic mastectomy of the breast. Can J Surg 2011;54:6010-6.
  12. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304:967-75. https://doi.org/10.1001/jama.2010.1237
  13. Eisen A, Lubinski J, Gronwald J, Moller P, Lynch HT, Klijn J, et al. Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers. J Natl Cancer Inst 2008; 100:1361-7. https://doi.org/10.1093/jnci/djn313
  14. Kang E, Ahn SH, Noh WC, Noh DY, Jung Y, Kim LS, et al. The change of practice patterns of the hereditary breast cancer management in Korea after the Korean Hereditary Breast Cancer Study. J Breast Cancer 2010;13:418-30. https://doi.org/10.4048/jbc.2010.13.4.418
  15. Choi MY, Lee JE, Kim SW, Lee SK, Hur SM, Kim S, et al. Incidental detection of ductal carcinoma in situ of the breast from bilateral prophylactic mastectomy of asymptomatic BRCA2 mutation carrier: A case report. J Breast Cancer 2010;13:311-7. https://doi.org/10.4048/jbc.2010.13.3.311
  16. King TA, Sakr R, Patil S, Gurevich I, Stempel M, Sampson M, et al. Clinical management factors contribute to the decision for contralateral prophylactic mastectomy. J Clin Oncol 2011;29:2158-64. https://doi.org/10.1200/JCO.2010.29.4041
  17. Brandberg Y, Sandelin K, Erikson S, Jurell G, Liljegren A, Lindblom A, et al. Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study. J Clin Oncol 2008;26: 3943-9. https://doi.org/10.1200/JCO.2007.13.9568