- Many patients with pathogenic BRCA 1 and BRCA2 variants elect to undergo bilateral risk reducing mastectomy (RRM):
- To not only maximally reduce risk of developing breast cancer, but also to omit the need for intensive breast imaging surveillance
- However, there is a paucity of data on surveillance strategies for BRCA 1 / BRCA 2 mutation carriers:
- Following either RRM or therapeutic mastectomies
- Regarding imaging surveillance after RRM:
- The American College of Radiology Appropriateness Criteria expert panel concluded:
- That most imaging techniques are usually inappropriate for surveillance for patients who have undergone RRM:
- Including those who have had skin and or nipple-sparing mastectomy
- In patients with suspected clinical findings:
- Ultrasound is the best imaging tool for diagnostic evaluation
- That most imaging techniques are usually inappropriate for surveillance for patients who have undergone RRM:
- The American College of Radiology Appropriateness Criteria expert panel concluded:
- A study from Israel included 53 asymptomatic BRCA 1 / BRCA 2 mutation carriers who underwent bilateral RRM and breast reconstruction:
- They found that over a median follow-up of 5.4 years:
- None went on to develop breast cancer
- In their population, patients were routinely followed with clinical exams every 6 months in a high-risk breast clinic as well as with annual ultrasound and breast MRI, staggered at 6-month intervals
- Based on the study findings, the authors suggested that imaging surveillance can be omitted for patients post-RRM
- They found that over a median follow-up of 5.4 years:
- Another larger retrospective study of 254 BRCA 1 /BRCA 2 positive patients in the Netherlands found that among 147 asymptomatic BRCA 1 / BRCA 2 positive patients who had bilateral RRM:
- Only one developed breast cancer in follow-up over a 5.5-year follow-up period:
- The risk of subsequent breast cancer developing was 0.2% / year
- Only one developed breast cancer in follow-up over a 5.5-year follow-up period:
- In a Cochrane review of seven retrospective and prospective studies of RRM for BRCA1 / BRCA 2 positive patients:
- The estimated risk of breast cancer was:
- 0.8% over 5 to 15 year follow up
- Five of those seven studies documented zero cases of breast cancer among 461 BRCA1 / BRCA 2 positive patients followed up to 14 years after RRM
- The estimated risk of breast cancer was:
- NCCN guidelines do not make recommendation for surveillance post RRM for BRCA+ patients
- Considering the number of studies demonstrating very low risk of breast cancer arising subsequent to RRM:
- Which equates to lower-than-average woman’s lifetime risk of breast cancer (non-genetic mutation carrier):
- Clinical exam follow-up by a primary care provider is acceptable and sufficient surveillance for the BRCA1 / BRCA 2 mutation carrier
- Which equates to lower-than-average woman’s lifetime risk of breast cancer (non-genetic mutation carrier):
- References:
- American College of Radiology. ACR Appropriateness Criteria – Imaging after Mastectomy and Breast Reconstruction. 2020. Accessed February 19, 2025. https://acsearch.acr.org/docs/3155410/Narrative/
- Kanana N, Ben David MA, Nissan N, et al. Postmastectomy surveillance of BRCA1/BRCA2 mutation carriers: Outcomes from a specialized clinic for high-risk breast cancer patients. Breast J. 2021;27(5):441-447.
- Kaas R, Verhoef S, Wesseling J, et al. Prophylactic mastectomy in BRCA1 and BRCA2 mutation carriers: Very low risk for subsequent breast cancer. Ann Surg. 2010; 251(3):488-492.
Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev. 2018;4(4):CD002748. - National Comprehensive Cancer Network. Clinical Practice Guideline – Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate. 2024. Accessed February 19, 2025. https://www.nccn.org/professionals/physician_gls/pdf/genetics_bopp.pdf
Rodrigo Arrangoiz MS, MD, FACS, FSSO 