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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.