Imaging and Screening of Hereditary Cancer Syndromes

There is a wide spectrum of mendelian disorders that predispose patients to an increased risk of benign as well as malignant tumors. Hereditary cancer syndromes are characterized by the early onset of diverse, frequently advanced malignancies in specific organ systems in multiple family members, posing significant challenges to diagnosis and management. A better understanding of the genetic abnormalities and pathophysiology that underlie these disorders has led to contemporary paradigms to screen, allowing early diagnosis, and has improved targeted therapies to aid in management. This article reviews select hereditary cancer syndromes with an emphasis on imaging-based screening and surveillance strategies.