Table 2 Relationship between the site of mutation in the APC gene and CHRPE status in 413 FAP patients from 285 families. The patients whose CHRPE status conforms to the published correlation are printed in bold.
From: Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients
Site of APC mutation (Codon) | Predicted CHRPE status | Number of patients examined for CHRPE | Number of patients with CHRPE | Number of patients without CHRPE |
|---|---|---|---|---|
122-414 | CHRPE-negative | 52 (39) ** | 6 (6) | 46 (34) |
423-1367 | CHRPE-positive | 307 (205) | 244 (156) | 63 (58) |
1451-2557 | CHRPE-negative | 34 (29) | 3 (3) | 31 (28) |
large deletions* | ? | 20 (12) | 15 (9) | 5 (5) |
all patients | Â | 413 (285) | 268 (174) | 145 (118) |