2001遗传型结肠癌及基因检测医学声明（英文）-AGA.docVIP

American Gastroenterological Association medical position statement: Hereditary colorectal cancer and genetic testing This document presents the official recommendations of the American Gastroenterological Association (AGA) on Hereditary Colorectal Cancer and Genetic Testing. It was approved by the Clinical Practice and Practice Economics Committee on March 20, 2001, and the AGA Governing Board on April 18, 2001. GASTROENTEROLOGY 2001;121:195-197 The following guidelines were developed to assist the primary care physician, internist, surgeon, and gastroenterologist with the appropriate provision of genetic testing for hereditary colorectal cancer. Hereditary colorectal cancer refers to familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC), the 2 best described hereditary syndromes for which genetic testing is clinically available. The integration of genetic testing into clinical practice provides multiple benefits to individuals in families with histories of colorectal cancer. These benefits include earlier detection of colorectal neoplasm and prevention of cancer, removal of patient uncertainty, greater choice of surgical and other intervention options, elimination of unnecessary screening, and provision of information for planning family and career decisions. In hereditary colorectal cancer, genetic testing has been shown to be cost-effective. Finally, past experience of health care providers in offering genetic testing has shown a need for greater education and guidelines. Genetic testing recommendations FAP Indications FAP is caused by mutation of the adenomatous polyposis coli (APC) gene. Genetic testing for APC gene mutation should be used to screen for FAP. APC gene testing is indicated to confirm the diagnosis of FAP, provide presymptomatic testing for at-risk members (first degree relatives 10 years or older of an affected patient), confirm the diagnosis of attenuated FAP in those with ≥20 adenomas, and test those 10