Hereditary Cancer Syndromes

Abstract

Abstract Objective.—To summarize the biological basis, clinical implications, identification, and medical management of syndromes associated with increased risk of common adult cancers. Data Sources.—Recent studies and data available from molecular and clinical analysis of genes responsible for autosomal-dominant inheritance of cancer risk. Data Synthesis.—Several hereditary cancer syndromes have been identified for which there are increasingly effective diagnostic and management options. Specific hereditary susceptibility syndromes have been characterized that increase the risk of malignancies of the breast, ovary, colon, endometrium, and endocrine organs. Following a summary of the biological basis of hereditary cancer risk in adults, the identification of such syndromes by clinical and laboratory means is reviewed. Finally, management options for individuals with these syndromes are summarized. Conclusions.—Advances in gene discovery have allowed the diagnosis of recently characterized hereditary cancer syndromes to enhance medical management for individuals with inherited susceptibility to common cancers.