Primary prevention
There is no primary prevention for the development of adenomas or colorectal cancer in a person born with a familial adenomatous polyposis (FAP)-causing adenomatous polyposis coli (APC) mutation.
Prenatal genetic testing may be offered to patients with FAP who have a known APC mutation.[24] Chorionic villus sampling and amniocentesis are two strategies for determining the APC mutation status of a fetus.
Preimplantation genetic testing is available to patients with a known APC mutation as a means to decrease the likelihood that their children will inherit the affected parent's APC mutation. In the UK, Australia, and the US, embryos fertilized using in vitro fertilization that test negative for the parent's known APC mutation have been implanted and have resulted in the delivery of healthy infants.[25][26][27]
Secondary prevention
Predictive genetic testing, in conjunction with careful endoscopic screening, is the main way to prevent advanced-stage colorectal cancer and duodenal/periampullary cancer in patients with FAP, as it will facilitate surveillance and timely treatment. Proctocolectomy, or colectomy with vigilant endoscopic management of rectal polyps, are the only means to prevent colorectal cancer in these patients.[9]
Esophagogastroduodenoscopy can be used to manage duodenal/periampullary polyps, but ampullectomy, pancreas-sparing duodenectomy, or a Whipple procedure may be necessary to prevent or control duodenal cancer associated with FAP.[37][51][87]
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