Genetics of colorectal cancer

Recent advances in understanding the genetic basis of malignant disease have been dominated by research in colorectal cancer. In familial adenomatous polyposis, characterisation of the causative gene had immediate clinical relevance allowing confident prediction of disease inheritance. Somatic mutations in this gene have been demonstrated to have a fundamental role in the development of sporadic colorectal cancer. More recently, efforts have focused on the genetic abnormalities responsible for hereditary non-polyposis colorectal cancer which may possibly account for up to 15% of all colorectal malignancies. In the foreseeable future, it is possible that significant population-based genetic screening for this condition will be available. As the molecular basis of colorectal cancer is elucidated, it will inevitably lead to radical changes in clinical management, particularly with the possible introduction of gene therapy and chemoprevention. This review discusses the current developments in colorectal cancer genetics which will be central to such changes.