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

Abstract

As genetic testing expands, radiologists increasingly care for carriers of pathogenic variants associated with inherited breast cancer. Across the literature and current guidelines, 3 themes emerge. First, gene-specific screening is essential. High-penetrance variants (BRCA1/2, TP53, PALB2, PTEN) warrant intensified surveillance, with annual MRI as the cornerstone and mammography tailored by gene and age. For moderate-penetrance variants (eg, ATM, CHEK2), risk-adapted strategies are recommended, with MRI considered when lifetime risk is ≥20% or when additional risk factors are present. Second, MRI provides the greatest incremental cancer detection in patients who are high risk; contrast-enhanced mammography and US may be reasonable alternatives when MRI is unavailable or contraindicated. Third, mutation-associated cancers show patterns that can reduce missed and interval cancers when radiologists stay alert to gene-specific presentations and background parenchymal enhancement on MRI. Radiologists play a central role in longitudinal surveillance and in counseling about risk-reducing options in coordination with genetics and surgery. These points translate the evidence into practical, gene-informed imaging care for patients with inherited breast cancer risk.