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Breast Imaging

E3059. BRCA and Beyond: Comprehensive Review of Hereditary Breast and Gynecologic Cancer Syndromes

Histed S1,  Woldenberg N2,  Roth A3,  Joines M1,  Patel M.1,3 1. University of California, Los Angeles, Los Angeles, CA; 2. Hoag Health Network, Newport Beach, CA; 3. Olive View-University of California, Los Angeles Medical Cente, Sylmar, CA

Address correspondence to S. Histed (shisted@mednet.ucla.edu)

Background Information: Radiologists play a central role in guiding high-risk patients with hereditary breast and gynecologic cancer, including patient identification, screening, diagnosis and staging. Familiarity with the associated genetic mutations, pathophysiology, incidence, specific cancer risks, and image-based screening guidelines is needed for collaborative high-level care of this patient population.

Educational Goals/Teaching Points: Several hereditary cancer syndromes are associated with increased risk of breast, ovarian, endometrial, and cervical as well as other non-breast and gynecologic cancers. Multimodal image-based screening may be indicated for these patients. Analyzing the presentation of these high-risk patients appropriately will guide diagnosis and management.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques: This presentation will encompass an image-rich comprehensive review of hereditary breast and gynecologic cancer syndromes, including hereditary breast and ovarian cancer associated with BRCA1/BRCA2 and Lynch syndrome, and less common syndromes including Peutz–Jegher, Gorlin, Li-Fraumeni and Cowden syndrome. For each syndrome, associated genetic mutations, pathophysiology, incidence, specific cancer risks, and image-based screening guidelines will be reviewed. In the discussion of each syndrome, subtypes of breast, ovarian, endometrial, and cervical cancer as well as non-breast and nongynecologic cancers will be addressed.

Conclusion: High-risk patients with hereditary breast and gynecologic cancer syndromes may require screening with multimodality imaging. Understanding the pathophysiology and specific associated cancer risk for each syndrome, as well as image-based screening guidelines, is important for the radiologist to assist in management for this population.