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

Authors
Hong, WS; Kim, KS; Jung, YS; Kang, SY; Kang, DK; Kim, TH; Yim, H; Chun, M; Park, MC; Chang, SJ
Citation
Journal of genetic medicine, 9(1):25-30, 2012
Journal Title
Journal of genetic medicine; 대한의학유전학회지
ISSN
1226-17692233-9108
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.
Keywords
Breast neoplasmsBRCA1 geneBRCA2 geneMastectomy
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Hematology-Oncology
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
Journal Papers > School of Medicine / Graduate School of Medicine > Pathology
Journal Papers > School of Medicine / Graduate School of Medicine > Radiation Oncology
Journal Papers > School of Medicine / Graduate School of Medicine > Plastic & Reconstructive Surgery
Journal Papers > School of Medicine / Graduate School of Medicine > Obstetrics & Gynecology
Journal Papers > School of Medicine / Graduate School of Medicine > Surgery
AJOU Authors
홍, 우성김, 구상정, 용식강, 석윤강, 두경김, 태희임, 현이전, 미선박, 명철장, 석준
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