Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations.
- Author:
Woo Sung HONG
1
;
Ku Sang KIM
;
Yong Sik JUNG
;
Seok Yun KANG
;
Doo Kyoung KANG
;
Tae Hee KIM
;
Hyunee YIM
;
Mison CHUN
;
Myong Chul PARK
;
Suk Joon CHANG
Author Information
- Publication Type:Case Report
- Keywords: Breast neoplasms; BRCA1 gene; BRCA2 gene; Mastectomy
- MeSH: Breast Neoplasms; Counseling; Genes, BRCA1; Genes, BRCA2; Genetic Testing; Humans; Kidney Neoplasms; Korea; Lymph Node Excision; Mastectomy; Mastectomy, Segmental; Mastectomy, Simple; Nephrectomy
- From:Journal of Genetic Medicine 2012;9(1):25-30
- CountryRepublic of Korea
- Language:English
- 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.
