Inherited Colon Cancer Syndromes

MEREDITH C. ROATH, MD JACK A. DI PALMA, MD University of South Alabama T he modern age of genetics began in the mid-19th century, and many scientific discoveries led to the sequencing of the human genome. Recent research has uncovered the genetic basis of many diseases, and continued study is certain to lead to more discoveries. The results of this research will continue to change medicine. Genetic information can be used to diagnose conditions and identify asymptomatic family members so that necessary screening or treatments can be implemented. It is also important in family planning for many persons who may carr y disease-causing genes. As this field continues to progress, patients will be eager to know what is available and how this can be applied to their families. Many diseases involving the gastrointestinal organs are inherited or have a genetic predisposition involved in disease expression. Some of these have commercially available tests that can be used for diagnostic or screening purposes in predisposed individuals. Many others have a genetic component that has been identified. These discoveries are already changing how we diagnose certain conditions and how we screen family members of patients with these conditions. In the future, we may be able to use this information to individually tailor therapies and improve outcomes and quality of life. The purpose of this 2-part article is to review this information and to discuss the implications for your practice. Here, in part 1, we address inherited colon cancer syndromes, juvenile polyposis, hereditary hemochromatosis, polycystic liver disease, autoimmune hepatitis, BuddChiari syndrome, alpha-1-antitrypsin deficiency, and Wilson disease. In a coming issue, we will focus on pancreatitis, celiac sprue, Peutz-Jeghers syndrome, neuroendocrine tumors, hereditary hemorrhagic telangiectasia, and inflammatory bowel disease.