The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis

Over the past decade, numerous germ-line mutations have been discovered that increase the risk of inherited cancers. Clinical applications of these findings include genetic testing for the diagnosis of inherited syndromes in patients with cancer and testing of persons at risk for these diseases (so-called presymptomatic testing). The promises and pitfalls of gene testing have received considerable attention, 1 – 6 leading several professional and consumer organizations to advocate care in the use of gene tests for evaluating the risk of cancer. 7 – 11 Gene testing for familial adenomatous polyposis is a clinically useful tool in the approach to families with this syndrome. . . .