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Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.

Puja P Bharucha¹, Kellie E Chiu¹, Fabienne M François¹

¹From the Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, 22 S Greene St, Baltimore, MD 21201.

Radiographics : a Review Publication of the Radiological Society of North America, Inc

|May 30, 2020

Summary

Radiologists play a key role in genetic counseling for breast cancer patients. Understanding genetic mutations and risk assessment improves early detection and patient survival through tailored screening.

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Area of Science:

Radiology
Medical Genetics
Oncology

Background:

Breast imaging specialists are often the first to discuss genetic counseling with patients.
Genetic testing panels are increasingly accessible and affordable.
Radiologists must be equipped to counsel patients and identify those needing genetic testing.

Purpose of the Study:

To review the process of genetic counseling for breast cancer.
To outline screening recommendations for high- and moderate-risk patients.
To discuss gene mutations, risk assessment tools, and associated imaging findings.

Main Methods:

Review of genetic counseling processes and risk assessment models (Gail, Tyrer-Cuzick).
Discussion of common high-risk (e.g., BRCA1/2, TP53) and moderate-risk (e.g., ATM, CHEK2) gene mutations.
Description of imaging appearances linked to specific gene mutations and associated cancers.

Main Results:

Genetic test results facilitate personalized screening strategies.
Early detection and timely treatment improve overall survival.
Understanding gene mutation-specific imaging characteristics aids diagnosis.

Conclusions:

Genetic counseling and testing are crucial for optimizing breast cancer patient care.
Radiologists are vital in identifying at-risk patients and guiding them through genetic testing.
Tailored screening based on genetic profiles enhances survival outcomes.