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

摘要

This article deals exclusively with the hereditary forms of colorectal cancer. Clinical examples of hereditary colorectal cancer syndromes abound; of these, familial adenomatous polyposis and Lynch syndrome are the most common and well known (Figure I).1 In this review, we use Lynch syndrome as an example for the diagnosis, testing of germ cells for mutations, surveillance and management of hereditary colorectal cancer. Lynch syndrome is the most common hereditary syndrome that predisposes patients to colorectal cancer. It accounts for 2%-5% of the total burden of colorectal cancer.2 The estimated number of new colorectal cancer cases in Canada in 2008 was 21 500.3 Thus, Lynch syndrome accounted for as many as 1075 cases in Canada in 2008. Each patient with Lynch syndrome may represent a family in which multiple family members can be expected to develop colorectal cancer or an integral extracolonic cancer. Clearly, these families have an important impact on public health policy.