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Colorectal cancer is the second leading cause of cancer-related deaths in the United States. However, 41% of patients do not receive adequate screening, since the surveillance guidelines for colonoscopy are complex and are not easily recalled by health care providers. As a potential solution, we developed a guideline based clinical decision support system (CDSS) that can interpret relevant freetext...
Double heterozygotes for mutations in APC and a DNA mismatch repair gene are extremely rare. We report on an individual who had truncating mutations in APC and MLH1 whose clinical presentation initially resembled Familial Adenomatous Polyposis but then emerged as a novel phenotype with multiple jejunal carcinomas. We have reviewed the relevant literature on double heterozygotes and based on what has...
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