Imaging Surveillance and Risk-Based Management of Known Genetic Mutations in Breast Cancer: A Radiologist's Guide.

Area of Science:

• Radiology
• Genetics
• Oncology

Background:

• Genetic testing for inherited breast cancer is expanding.
• Radiologists increasingly manage carriers of pathogenic variants.
• Current guidelines emphasize gene-specific screening strategies.

Purpose of the Study:

• To outline practical, gene-informed imaging surveillance for patients with inherited breast cancer risk.
• To summarize key themes from literature and guidelines for radiologists.
• To highlight the role of radiologists in managing high-risk individuals.

Main Methods:

• Literature review and synthesis of current guidelines.
• Identification of key themes in gene-specific screening and surveillance.
• Analysis of imaging modalities and their utility in high-risk populations.

Main Results:

• High-penetrance variants (BRCA1/2, TP53, PALB2, PTEN) require intensified surveillance with annual MRI and tailored mammography.
• Moderate-penetrance variants (ATM, CHEK2) benefit from risk-adapted strategies, considering MRI for elevated lifetime risk.
• MRI offers the most significant incremental cancer detection in high-risk patients; contrast-enhanced mammography and ultrasound are alternatives.
• Recognizing gene-specific cancer presentations and MRI background parenchymal enhancement can reduce missed and interval cancers.

Conclusions:

• Gene-specific imaging surveillance is essential for carriers of pathogenic breast cancer variants.
• Radiologists play a vital role in longitudinal surveillance and counseling for risk-reducing options.
• Practical, evidence-based imaging care informed by genetic risk is crucial for patients with inherited breast cancer.