Table 1

 Genotype-phenotype correlations for upper gastrointestinal polyposis in familial adenomatous polyposis (FAP)

AuthorNo of FAP patientsFindingsConclusion
APC, adenomatous polyposis coli; COX, cyclooxygenase; AFAP, attenuated familial adenomatous polyposis.
Groves21129 patients with known APC mutation245 patients underwent upper GI endoscopy, 129 had known germline mutations. Mutations after codon 1400 tend to give rise to more severe duodenal polyposisExon 15 (distal)
Attard2215 patients with known APC mutation24 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 1694Exon 15 (distal)
Matsumoto234 members of 1 family4 patients from 1 family with severe duodenal adenomatosis and a frame shift mutation in codon 1556Exon 15 (distal)
Legget242 members of 1 family2 members of 1 family with sparse colonic but severe upper GI adenomatosis and a 2 bp deletion in codon 1520Exon 15 (distal)
Trimbath251 (AFAP)AFAP patient presenting with ampullary adenocarcinoma and distal 3′ (exon 15) APC mutationExon 15
Bjork1115 patients with known APC mutation19 patients with stage IV duodenal adenomatosis or carcinoma.15 APC mutations were detected, 12 were downstream of codon 1051 in exon 15Exon 15
Bertario18399 patients from 78 families with known APC mutationMutations between codons 976 and 1067 were associated with 3–4-fold increased risk of duodenal adenomasExon 15 (proximal)
Enomoto2662 patients from 30 families with known APC mutationPatients with germline mutations between codons564 and 1465 have higher frequencies of upper GI adenomas than patients with a mutation between codons 157 and 416Exon 10–15
Matsumoto2734 patients from 25 families with known APC mutationPatients with distal (exon 10–15) APC mutations have higher prevalence of duodenal adenomas than patients with proximal (exon 1–9) mutationsExon 10–15
Saurin2033 patients from 17 families with known APC mutationMutation in central part (279–1309), risk factor for development of severe duodenal adenomatosisCodon 279–1309
Soravia197 AFAP kindredsKindreds with 5′ end mutations (exon 4 and 5) have more duodenal adenomas than kindreds with mutations in exon 9 and 3′ distal endExon 4 and 5
Friedl1786 patients from 77 families with known APC mutation134 patients from 125 families had duodenal adenomas. From 86 patients the germline mutation was known No correlation between site of mutation and duodenal adenomatosisNo correlation