Groves21 | 129 patients with known APC mutation | 245 patients underwent upper GI endoscopy, 129 had known germline mutations. Mutations after codon 1400 tend to give rise to more severe duodenal polyposis | Exon 15 (distal) |
Attard22 | 15 patients with known APC mutation | 24 paediatric patients from 21 families underwent upper GI endoscopy. 15 patients had known APC mutation. Patients with upper GI adenomas were more likely to have mutations between codons 1225 and 1694 | Exon 15 (distal) |
Matsumoto23 | 4 members of 1 family | 4 patients from 1 family with severe duodenal adenomatosis and a frame shift mutation in codon 1556 | Exon 15 (distal) |
Legget24 | 2 members of 1 family | 2 members of 1 family with sparse colonic but severe upper GI adenomatosis and a 2 bp deletion in codon 1520 | Exon 15 (distal) |
Trimbath25 | 1 (AFAP) | AFAP patient presenting with ampullary adenocarcinoma and distal 3′ (exon 15) APC mutation | Exon 15 |
Bjork11 | 15 patients with known APC mutation | 19 patients with stage IV duodenal adenomatosis or carcinoma.15 APC mutations were detected, 12 were downstream of codon 1051 in exon 15 | Exon 15 |
Bertario18 | 399 patients from 78 families with known APC mutation | Mutations between codons 976 and 1067 were associated with 3–4-fold increased risk of duodenal adenomas | Exon 15 (proximal) |
Enomoto26 | 62 patients from 30 families with known APC mutation | Patients with germline mutations between codons564 and 1465 have higher frequencies of upper GI adenomas than patients with a mutation between codons 157 and 416 | Exon 10–15 |
Matsumoto27 | 34 patients from 25 families with known APC mutation | Patients with distal (exon 10–15) APC mutations have higher prevalence of duodenal adenomas than patients with proximal (exon 1–9) mutations | Exon 10–15 |
Saurin20 | 33 patients from 17 families with known APC mutation | Mutation in central part (279–1309), risk factor for development of severe duodenal adenomatosis | Codon 279–1309 |
Soravia19 | 7 AFAP kindreds | Kindreds with 5′ end mutations (exon 4 and 5) have more duodenal adenomas than kindreds with mutations in exon 9 and 3′ distal end | Exon 4 and 5 |
Friedl17 | 86 patients from 77 families with known APC mutation | 134 patients from 125 families had duodenal adenomas. From 86 patients the germline mutation was known No correlation between site of mutation and duodenal adenomatosis | No correlation |