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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   413 (285) 268 (174) 145 (118)
  1. *Patients with large deletions encompassing the whole gene were in both CHRPE-positive and CHRPE-negative groups.
  2. **The numbers of families are shown in parentheses. In some families a discrepant CHRPE status was observed.