Genetic Predisposition as a Basis for Chemoprevention, Surgical and Other Interventions in Colorectal Cancer

摘要

Strategies of cancer prevention are generally developed with the population at large in mind. However, special attention is warranted for those persons with rare genetic traits associated with a greatly elevated risk of developing colorectal cancer (CRC) and some other malignancies: Orphan diseases demand Orphan preventive measures! Recent advances in modern genetics have enhanced our understanding of several genes and the specific germ-line mutations responsible for colorectal carcinogenesis. A number of features provide evidence for a genetic predisposition to CRC. These include typical clinical and histological features of a particular syndrome, a familial aggregation of CRC and associated malignancies, young age at onset of CRC, occurrence of multiple neoplasias and/or unusual localisation of the tumour (e.g., right side of the colon). In hereditary colorectal cancer, genetic testing can easily be demonstrated as cost-effective.