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Radiologists play a central role in guiding high-risk patients with hereditary breast and gynecologic cancers 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 high-risk patient population. Several hereditary cancer syndromes are associated with increased risk of breast, ovarian, endometrial and cervical cancer 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.
TABLE OF CONTENTS/OUTLINEImage-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. Associated genetic mutations, pathophysiology, incidence, specific cancer risks and image-based screening guidelines. Discussion of the subtypes of breast, ovarian, endometrial and cervical cancer as well as non-breast and gynecologic cancers in each syndrome.