Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations
Journal of Genetic Medicine
;
: 25-30, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-66744
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neoplasias da Mama
/
Mastectomia Segmentar
/
Mastectomia Simples
/
Testes Genéticos
/
Genes BRCA1
/
Aconselhamento
/
Genes BRCA2
/
Neoplasias Renais
/
Coreia (Geográfico)
/
Excisão de Linfonodo
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2012
Tipo de documento:
Artigo
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