Some families have a germline risk for developing thyroid and other cancers. An understanding of the genomic alterations that occur in these tumors will help to explain the diverse clinical characteristics of thyroid tumors, provide diagnostic information, and direct therapy. This article reviews the classification, genetics, and risks and management of hereditary cancer syndromes, as well as the somatic gene variants found in thyroid epithelial tumors, with clinical implications.
Keywords: hereditary cancer syndromes; personalized medicine; thyroid cancer; variant.