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

Motaz Daraghma; Aiah Alatoum; Bruna M Thompson Jacinto; Fabiola P Kestelman; Reine I Fahed; Fabiana C Policeni; Su J Kim Hsieh

doi:10.1093/jbi/wbaf054

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

Journal article

Peer reviewed

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

Motaz Daraghma, Aiah Alatoum, Bruna M Thompson Jacinto, Fabiola P Kestelman, Reine I Fahed, Fabiana C Policeni and Su J Kim Hsieh

Journal of breast imaging, Vol.7(6), pp.636-652

12/13/2025

DOI: 10.1093/jbi/wbaf054

PMID: 41386971

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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.

Mutation

Breast - diagnostic imaging

Breast Neoplasms - diagnostic imaging

Breast Neoplasms - genetics

Female

Genetic Predisposition to Disease

Genetic Testing

Humans

Magnetic Resonance Imaging - methods

Mammography - methods

Practice Guidelines as Topic

Details

Title: Subtitle: Imaging Surveillance and Risk-Based Management of Known Genetic Mutations in Breast Cancer: A Radiologist's Guide
Creators: Motaz Daraghma - University of Iowa Hospitals and Clinics
Aiah Alatoum - University of Iowa
Bruna M Thompson Jacinto - University of Iowa
Fabiola P Kestelman - University of Iowa
Reine I Fahed - University of Iowa
Fabiana C Policeni - University of Iowa
Su J Kim Hsieh - University of Iowa
Resource Type: Journal article
Publication Details: Journal of breast imaging, Vol.7(6), pp.636-652
DOI: 10.1093/jbi/wbaf054
PMID: 41386971
NLM abbreviation: J Breast Imaging
ISSN: 2631-6110
eISSN: 2631-6129
Publisher: Oxford University Press
Language: English
Date published: 12/13/2025
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Radiology
Record Identifier: 9985090653802771

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