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

• 발행기관: 대한의학유전학회
• 저자명: Woo Sung Hong 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
• 간행물 정보: 『대한의학유전학회지』제9권 제1호, 25~30쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2012.09.01

영문 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.

목차

Introduction

Case Report

Discussion

Acknowledgement

References

키워드

Breast neoplasms BRCA1 gene BRCA2 gene Mastectomy