May 31st | Colon And Rectal Surgery
Our knowledge about HNPCC continues to grow. This disorder is associated with a germline mutation in one of several MMR genes. Genetic testing is currently available for mutations in genes hMLH1 and hMHS2 . Suspicion of this disorder in a given patient is raised by a family history of early age onset cancer, an increased number of first-degree relatives with colorectal cancer, or an HNPCC-related cancer. Endometrial cancer is the most common extracolonic cancer. Although there is debate regarding the frequency and beginning of screening, most clinicians believe that colonic examinations yearly or every 2 years should be performed beginning in patients in their early 20s. Prophylactic colectomy may be offered to known mutation carriers as well as members of at-risk families who develop advanced adenomas. Removal of all of the colon and IRA or colectomy and IPAA are the operations of choice, because they remove most ?at-risk? colonic mucosa. In the event of the former, continued surveillance of the rectum is mandatory. With careful surveillance and management, colorectal cancer can be prevented in these patients and the mortality rate decreased. In those who develop colorectal carcinoma, the overall survival rate is more favorable than that of patients with sporadic colorectal cancer. Appendix I: Practice Parameters for the Identification and Testing of Patients at Risk for Dominantly Inherited Colorectal Cancer Prepared by The Standards Task Force, The American Society of Colon and Rectal Surgeons, The Collaborative Group of the Americas on Inherited Colorectal Cancer ?Take a family history. This is the first step in recognizing families possibly affected by inherited colorectal cancer. ?Document a suspicious pedigree; a family tree based on the recollection of family members is not solid enough evidence. Request medical records to confirm diagnosis. ?Identify criteria for genetic testing. FAP is easily recognized clinically when patients present with more than 100 colorectal adenomas. Fewer adenomas are needed for a diagnosis when a patient is part of an established kindred. The Amsterdam criteria are a way of clinically identifying families with hereditary nonpolyposis colorectal cancer, where an MMR gene mutation can be detected. ?Testing for MSI in tumors is a screen for families with hereditary nonpolyposis colorectal cancer where the clinical pattern of the disease is suggestive but not strong enough to fulfill Amsterdam criteria. ?Offer surveillance to families not meeting the above criteria for genetic testing. Families with more than two first-degree relatives affected with colorectal cancer, especially if one is affected at a young age , need to be offered endoscopic surveillance even if genetic testing is not indicated. ?Adhere to all protocols for genetic testing. Institutional review board approval, informed consent, and pretest and posttest counseling are the key elements of genetic testing for inherited colorectal cancer.
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Tags: cancer, Colorectal, conclusion
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