Hereditary Neoplastic Syndromes

The recent clinical availability of germ-line mutation testing for susceptibility genes related to the hereditary forms of common tumors such as breast, ovary, colorectum, and melanoma has served as a powerful catalyst for diverse research activities. Laboratory research, which has been propelled forward by access to carefully annotated biological samples obtained from cancer-prone families, is now challenged by an increasingly complex regulatory environment related to the ethical use of such specimens. Practitioners are being confronted by a host of new clinical issues, including those related to predictive risk assessment, genetic counseling, and germ-line mutation testing for clinical decision-making; the duty to warn at-risk relatives versus their high-risk patient's right to privacy and confidentiality; and, most importantly, the need for evidence-based, safe, and effective management recommendations for high-risk individuals. This chapter touches briefly upon some of these issues then provides a thumbnail description of selected hereditary cancer syndromes. It considers only some disorders for which a Mendelian mode of inheritance has been established and for which at least one germ-line susceptibility gene has been identified.