Screening in Women With BRCA Mutations Revisited.
Heather I Greenwood1, Katerina Dodelzon2
1Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA.
Journal of Breast Imaging
|January 2, 2024
Summary
Individuals with BRCA1 or BRCA2 gene mutations face a higher risk of breast cancer. This review details evidence-based screening and imaging guidelines for these high-risk patients, including transgender considerations.
Area of Science:
- Oncology
- Genetics
- Radiology
Background:
- Patients with pathogenic mutations in BRCA1 or BRCA2 genes have a significantly elevated lifetime risk for developing breast cancer.
- Early and effective screening strategies are crucial for managing breast cancer risk in this high-risk population.
- Prophylactic mastectomy is an option, but many patients opt for surveillance.
Approach:
- This review synthesizes current evidence regarding breast cancer screening protocols for BRCA1/BRCA2 mutation carriers.
- It examines age-appropriate initiation of screening and recommended imaging modalities.
- Special attention is given to the unique screening needs of transgender individuals with these mutations.
Key Points:
- Evidence-based imaging recommendations for BRCA1/BRCA2 mutation carriers are reviewed.
- Optimal age for initiating breast cancer screening in this population is discussed.
- Screening strategies for transgender BRCA1/BRCA2 mutation carriers are highlighted.
Conclusions:
- Tailored, evidence-based screening protocols are essential for optimizing breast cancer detection in BRCA1/BRCA2 mutation carriers.
- Multimodal imaging approaches and consideration of individual risk factors are key.
- Addressing the specific needs of transgender individuals enhances equitable care in high-risk breast cancer surveillance.


