Gynecologic Manifestations of Hereditary Syndromes: Clinical and Imaging Spectrum

Gynecologic manifestations often serve as key diagnostic clues associated with a broad spectrum of hereditary syndromes. The authors summarize the spectrum of gynecologic abnormalities observed with these syndromes, emphasizing their implications for radiologic practice. Hereditary cancer predisposition syndromes such as Lynch syndrome, BRCA and BRCA2 mutations, and Cowden syndrome are associated with distinct gynecologic features, including increased risks of cancers and structural anomalies, which can be effectively assessed with imaging. The authors synthesize current knowledge on the imaging characteristics of gynecologic abnormalities linked to these syndromes and highlight the diagnostic challenges in image interpretation. Current syndrome-specific imaging recommendations, including screening and surveillance guidelines, are also summarized herein. The authors emphasize the importance of integrating radiologic findings with clinical context, with the aim enhancing awareness and expertise in the detection and characterization of gynecologic manifestations associated with hereditary syndromes, thereby contributing to optimal patient management. ^©RSNA, 2025.