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Progression to duodenal cancer cannot be predicted from germline mutation of the APC gene in patients with familial adenomatous polyposis (FAP), a 10 year prospective study has shown. The researchers made the discovery during their assessment of how endoscopic surveillance for the presence and severity of duodenal polyps in FAP related to progression to duodenal cancer and its management and outcome.
Among 90 patients with duodenal polyps due to FAP, 19 did not have APC gene mutation and five had a mutation on exon 15 that could not be characterised by standard techniques. Data on the remaining 66 patients (73%) from 26 of 44 families (60%) showed that 5 base pair deletions at codons 1061 (14 patients, eight families) and 1309 (10, five) on exon 15 were the most common mutations. A similar proportion of patients with severe duodenal polyps (stage III, IV, and duodenal cancer) had mutations on exons 1–14 (53%) as on exon 15 (54%). The proportion of these patients with or without APC mutation was also similar statistically (54% v 39%, respectively).
The study included 114 patients with FAP undergoing endoscopy of the upper gastrointestinal tract to ascertain size and position of gastric and duodenal polyps and reviewed prospectively over 10 years. Ninety patients were tested for APC germline mutation.