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Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations
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  • Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations
  • Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations
저자명
Hong. Woo-Sung,Kim. Ku-Sang,Jung. Yong-Sik,Kang. Seok-Yun,Kang. Doo-Kyoung,Kim. Tae-Hee,Yim. Hyunee,Chun. Mi-Son,Park. Myong-Chu
간행물명
Journal of genetic medicine
권/호정보
2012년|9권 1호|pp.25-30 (6 pages)
발행정보
대한의학유전학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

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.