Journal of Genetic Medicine

  • 제9권1호
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  • Pages.25-30
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  • 2012
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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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)
  • 투고 : 2012.03.10
  • 심사 : 2012.05.16
  • 발행 : 2012.06.30
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초록

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.

키워드

참고문헌

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