Who requires genetic testing?
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Colorectal cancer (CRC) is the second most common cancer worldwide and the second leading cause of cancer mortality in Western countries. The lifetime risk of CRC in the average-risk person—one aged above 50 years and without a personal or family history of this neoplasm—is 5% to 6%. This risk may be as high as 20% if first-or second-degree relatives have CRC and reaches a lifetime risk of 80% to 100% in hereditary syndromes. Knowledge of the genetic basis for CRC has been applied to genetic testing, genotypic-phenotypic correlations, and provision of a rationale for chemopreventive and therapeutic approaches. This article reviews the most relevant recent advances in the genetics of polyposis and nonpolyposis colorectal syndromes, emphasizing their clinical application in gene testing.
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