Although not yet ready for clinical application, a new screening test, using stool specimens, could detect early colorectal cancer. The earliest detectable molecular abnormality in both familial and sporadic colorectal cancer is a mutation of the adenomatous polyposis coli (APC) gene. Recently, researchers from the United States and Sweden overcame major technical hurdles to detect APC mutations in the faecal DNA of patients with colorectal tumours. APC mutations were detected in stools of 26 of the 46 patients with neoplasia, and none of the 28 control patients. Six (of 12) patients whose neoplasia was not detected with the stool screen were found to have APC mutations in their tumours. Thus, 78% of patients (95% CI, 65%–89%) had mutations potentially detectable by this new assay. So far the assay appears to be highly specific but is lacking sensitivity.
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