Role of Breast Surgery in BRCA Mutation Carriers

Abstract

BRCA mutation carriers have a life-long breast cancer risk between 55 and 85% and a high risk of developing breast cancer at a very young age, depending on the type of mutation. The risk of developing contralateral breast cancer after a first breast cancer is elevated up to 65%, especially in case of BRCA1 mutation and young age at the first breast cancer. Since bilateral prophylactic mastectomy is associated with a risk reduction of 90–95% of developing primary or contralateral breast cancer, this option is a key point within the counseling process for patient information and shared decision-making of mutation carriers. Although the local control after breast-conserving therapy in mutation carriers seems to be comparable to that of sporadic breast cancer patients, individual patient information and counseling should include all alternative procedures of oncologically adequate mastectomy techniques and immediate reconstruction. Excellent cosmetic results, high levels of life quality, and good patient acceptance can be achieved with the recent developments in reconstructive surgery of the breast.

Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study

“…39 Our findings are in accordance with reported rates of CPM in P/LP BRCA1/2 variant carriers ranging between 0% and 49.3% while BC history, an aggregation of familial BC cases and a young age at cancer onset were predictive factors for bilateral risk-reducing ME or CPM. [40][41][42][43] Women opting for PO in our cohort were slightly older and most of them had a prior BC diagnosis. As LFS-BC often occurs below the age of 31, prophylactic surgery might be even justifiable before the age of 30 in healthy women meeting classical LFS criteria.…”

“…While studies focusing on PO among TP53 germline variant carriers are missing, systematic reviews in subjects with other high penetrant BC genes such as BRCA 1 and 2 described high satisfaction with PO, good quality of life and excellent cosmetic results whereupon 90% would repeat the surgical procedure 20 years postoperatively. 40 , 46 , 47 However, if postoperative complications and subsequent surgeries were performed, it had a negative perception of PO. 48 , 49 , 50 Prospective studies are desirable to address the best surgical technique and the respective satisfaction in women with LFS.…”

Surgery for BRCA, TP53 and PALB2: a literature review

“…There is still controversy over the optimal surgical choice in BRCA -associated breast cancer with regards to the extent of breast tissue removed and the effectiveness of the different surgical techniques. Furthermore, there is the increasing use of prophylactic bilateral mastectomy among healthy women with BRCA mutations to prevent future breast cancer, while BRCA mutation carriers with breast cancer are also choosing to have a contralateral prophylactic mastectomy to prevent contralateral breast cancer [ 6 ].…”