title: Clinical implications of our advancing knowledge of colorectal cancer genetics: inherited syndromes, prognosis, prevention, screening and therapeutics.
abstract: Recent genetic advances in our knowledge of colorectal cancer genetics are beginning to pay translational dividends in the management of this common clinical problem. We are now able to accurately screen and counsel individuals at risk of rare inherited cancer syndromes. We have recently introduced two of what are sure to be numerous biologic-based therapies, and have shown that colorectal neoplasia risk can be modestly reduced by various chemopreventative agents. Finally, our advancing knowledge has led to significant inroads into understanding what genetic alterations define prognosis and predict response to specific chemotherapeutic agents, and we are beginning to explore the utility of this knowledge in mass genetic-based clinical screening efforts. Enthusiasm must be tempered, however, by the extraordinary cost that often accompanies relatively modest gains. Finally, although genetic-based therapy often receives the greatest attention, molecular genetics, will likely have the greatest cost-effective impact in primary prevention and early diagnosis.
authors.affiliation: Department of Surgery and Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, 600 University Avenue, Suite 455, Toronto, Ontario, Canada, M5G 1X5. rgryfe@mtsinai.on.ca
authors.forename: Robert
authors.initials: R
authors.lastname: Gryfe
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D016588:Anticarcinogenic Agents / Q000627:therapeutic use; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D005820:Genetic Testing; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D011379:Prognosis
chemical_list: D016588:Anticarcinogenic Agents