Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model

Increased knowledge of genetics and molecular pathophysiologic pathways holds the promise for the development and timing of screening measures, such as colonoscopy, which may facilitate detection of presymptomatic cancer and potentially a reduction of mortality. Insight into the molecular genetic mechanisms of hereditary cancer syndromes may improve targeted cancer control measures and pharmacologic therapy. Thus, it may one day become possible to select therapy based on genomic or proteomic profiles for targeted molecular-based pharmacologic therapy. Physicians must attain a better grasp of hereditary cancer syndromes and, when more expertise is needed, make appropriate referrals to experienced medical geneticists or a centre with expertise in hereditary cancer. Lives can be saved through cancer prevention using genetic knowledge. © 2009 Canadian Medical Association or its licensors.