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Table 4 Distribution of patients according to the site of APC mutation and the presence or absence of desmoids and osteomas

From: Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

   Site of mutation
  All 5' to codon 1444 3' to codon 1444 large deletions
All patients 1379 1169 132 78
Desmoids     
   present 76 52 19 5
   absent 304 267 22 15
   all* 380 319 41 20
   % desmoids 20% 16% 46% 25%
   % desmoids (minimal estimate)** (5%) (4%) (14%) (6%)
Osteomas     
   present 65 36 28 1
   absent 130 115 8 7
   all* 195 151 36 8
   % osteomas 33% 23% 78% 12%
   % osteomas (minimal estimate)** (5%) (3%) (21%) (1%)
  1. *number of patients with records regarding presence or absence of desmoids/osteomas
  2. **Because of a selection bias towards patients with expressed desmoids or osteomas, a minimal estimate was calculated based on the documented presence of the respective extracolonic manifestations in all patients.