Long-Term, Prospective Assessment of Cancer Risk in APC c.3920T>A (I1307K) Carriers: Evidence From a Cohort of Over 21,000 Healthy Individuals

The adenomatous polyposis coli (APC) gene, first identified and cloned in the early 1990s, functions as a key tumor suppressor, particularly in the context of familial adenomatous polyposis (MIM: 175100).1 Familial adenomatous polyposis is an autosomal dominant syndrome characterized by the development of hundreds to thousands of colonic adenomas, many of which progress to colorectal cancer (CRC). The disorder is typically caused by pathogenic APC mutations leading to truncated or nonfunctional protein products.