To have a better understanding of the role of endoscopy in familial adenomatous polyposis, it is necessary to clarify some concepts in colon cancer development. Colon cancer (CRC) arises from a dys-plastic precursor lesion called adenomatous polyp (or adenoma). Approximately 30-40% of people over 50 years of age will develop an adenoma, but not all adenomas will progress to CRC. In the general population some individuals tend to develop one or only a few adenomas and endoscopic polypectomy is often sufficient for removing them, thereby markedly reducing the subsequent development to CRC. Adenomas arise when both copies of the APC gene are lost. Indeed, the APC gene is considered the "gatekeeper" of the colon, protecting against the development of adenomas. The loss of APC gene function permits adenoma formation and sets the stage for subsequent molecular alterations of genes such as k-ras and p53, which promote further progression to CRC (Fig. 1). Some people develop multiple polyps of the colon at a younger age due to inheritance of a germline mutation of a gene that predisposes to CRC.
Since these patients are at increased risk of CRC (and other types of cancer), it is important to recognize these syndromes earlier (Table 1). Therefore, endoscopic procedures play a crucial role in the diagnosis, staging and follow-up of these conditions.
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