J Genet Med.  2012 Jun;9(1):25-30. 10.5734/JGM.2012.9.1.25.

Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations

Affiliations
  • 1Department of Surgery, Ajou University School of Medicine, Suwon, Korea. ideakims@gmail.com
  • 2Department of Hematology - Oncology, Ajou University School of Medicine, Suwon, Korea.
  • 3Department of Radiology, Ajou University School of Medicine, Suwon, Korea.
  • 4Department of Pathology, Ajou University School of Medicine, Suwon, Korea.
  • 5Department of Radiation Oncology, Ajou University School of Medicine, Suwon, Korea.
  • 6Department of Plastic and Reconstructive Surgery, Ajou University School of Medicine, Suwon, Korea.
  • 7Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea.

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.

Keyword

Breast neoplasms; BRCA1 gene; BRCA2 gene; Mastectomy
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