Prophylactic nipple-sparing mastectomy and immediate breast reconstruction in Chinese BRCA1/2 carriers: a case series with 45-month follow-up and zero breast cancer incidence

Background: Nipple-sparing prophylactic bilateral mastectomy (NSM) dramatically decreases the risk of breast cancer in healthy women with germline BRCA1/2 pathogenic variants (PVs). Unlike Western BRCA1/2 carriers, data regarding this procedure for Chinese healthy women with BRCA1/2 PVs are currently lacking. This may be attributed to many factors, including the incomplete nationwide availability of BRCA1/2 gene testing and lack of precise risk estimate, Chinese culture, and limited reconstruction accessibility. Here, we report nine highly selected Chinese BRCA1/2 carriers with a strong desire and family cancer history who underwent this procedure.

Case Description: Nine healthy Chinese BRCA1/2 carriers (6 BRCA1 and 3 BRCA2 carriers) underwent NSM and immediate breast reconstruction at Peking University International Hospital from January 2018 to August 2022. All nine women carried germline BRCA1/2 PVs identified by two independent agencies. The median age at surgery in this series was 36 years (range 34 to 57), with eight of them aged at 40 years or younger. Eight had a family history of breast and/or ovarian cancer; two BRCA1 carriers had a prior history of triple-negative breast cancer in their left breast and had received breast-conserving therapy, adjuvant chemotherapy and radiotherapy. No imaging abnormalities were found in the nine carriers before operation through ultrasound, mammography, or breast MRI. All nine women were anxious about breast cancer risk and had a strong desire to receive this procedure. Therefore, the nine women received NSM and immediate breast reconstruction; both sides of the breast were removed entirely while nipples and breast skin were retained, and the implants were primarily positioned in a subpectoral plane. Ductal carcinoma in situ was found in one side of the breast sample in two women through pathological diagnosis. After a median follow-up of 45.0 months, no breast cancer occurred in any patient, and all women reported satisfaction with the aesthetic outcome and breast symmetry. Anxiety about breast cancer risk was remarkably reduced.

Conclusions: Prophylactic NSM and immediate breast reconstruction may be a viable option for highly selected healthy Chinese women with germline BRCA1/2 PVs to reduce breast cancer risk, especially for BRCA1/2 carriers with a family history of breast cancer.