J.Jpn. Surg. Soc.
ISSN 1880-1129

[Abstract] [Full Text HTML] [Full Text PDF] （in Japanese / 1469KB） [Members Only]

J.Jpn. Surg. Soc.. 127(3): 287-294, 2026

Feature topic

SCREENING AND DIAGNOSTIC RADIOLOGY WITH CONSIDERATION OF GENETIC TESTING

1) Preemptive Medicine and Lifestyle-related Disease Research Center, Kyoto University Hospital, Kyoto, Japan
2) Department of Translational Medicine, Diagnostic Radiology, Lund University, Malmö, Sweden
3) Department of Diagnostic Imaging and Physiology, Skåne University Hospital, Malmö, Sweden

Masako Kataoka1), Maya Honda1), Akane Ohashi2)3)

Advances in genetic diagnosis are transforming breast cancer screening and imaging. For BRCA1/2 mutation carriers, annual surveillance with contrast-enhanced MRI (CE-MRI) significantly reduces mortality. However, accessibility and cost remain challenges. To address these, alternative methods such as abbreviated MRI, ultrafast MRI, noncontrast MRI, and contrast-enhanced mammography (CEM) are being evaluated.
Imaging characteristics vary by genotype; BRCA1-related cancers often present as well-defined masses, while BRCA2-related cancers frequently exhibit microcalcifications. Understanding these features and sharing genetic information with radiologists is crucial for high-quality diagnosis, as early-stage lesions can mimic benign findings. Furthermore, the use of Polygenic Risk Scores (PRS) allows for detailed stratification, including intermediate-risk groups. Combining lifelong genetic risk with short-term risk assessment via AI-based mammography analysis facilitates “personalized screening,” overcoming the limitations of conventional “one-size-fits-all” approaches. This article reviews the latest evidence to share essential information with surgeons.

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