Genetic Factors
Hereditary Cancer Predisposition Syndromes
Summary of Key Points
• The discovery of inherited mutations of genes associated with increased risk for cancer provides important clinical opportunities for early detection and prevention of common and rare forms of human malignancies.
• Syndromes of cancer predisposition often involve multiple organ systems, affect paired organs with bilateral or multifocal tumors, and have onset at an earlier age compared with nonfamilial tumors. The diagnosis of particular cancer predisposition syndromes can usually be confirmed with molecular genetic testing of patients who have hereditary malignancies. Genetic testing can then be extended to relatives as a predictive test to guide their preventive management.
• Medical, surgical, and radiation oncologists, genetic counselors, and allied professionals are playing a leading role in the integration of genetic testing into the practice of preventive oncology. Recently, genomic analysis has been applied to tumors to discover targets for therapy. Because tumor genomic analysis will also include a comparison with the germline, the need for genetic counseling for both cancer and noncancer disease risks will be increased. This chapter reviews both common and more recently described familial cancer syndromes, with an emphasis on the clinical application of cancer genetic and genomic analysis in the management of patients who have or are at risk for cancer.
