Table 3 Grouping of patients classified according to the site of APC mutation and colorectal phenotype. The numbers of patients with the expected phenotype at the respective germline mutation region are printed in bold
From: Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients
| Â | Â | Colorectal phenotype | ||||||
|---|---|---|---|---|---|---|---|---|
Site of APC mutation (Codon) | Predicted phenotype | All patients | known | severe | typical | atypical | attenuated | unknown |
122-161 314-405 1581-2557 | Attenuated FAP | 146 | 101 | Â | 9 | 8 | 84 | 45 |
170-1578 without 1309 | Typical FAP | 1059 | 735 | 34 | 587 | 46 | 68 | 324 |
1309 | Severe FAP | 96 | 83 | 28 | 52 | 1 | 2 | 13 |
Large deletions | ? | 78 | 67 | Â | 57 | 4 | 6 | 11 |
No mutation | ? | 687 | 540 | 12 | 123 | 52 | 353 | 147 |
All | Â | 2066 | 1526 | 74 | 828 | 111 | 513 | 540 |