Table 2

Summary of APC mutations identified in FAP and non-FAP patients

Mutation typeFAPNon-FAP
Base substitutionsChain terminating mutations35
Amino acid changes33
Splice defects2
FrameshiftsInsertions1 bp7
2 bp1
Deletions1 bp9
2 bp2
4 bp5
5 bp22
10 bp1
PTT truncated proteins23
Unknown13
Total1233
  • Table summarises chain terminating mutations and amino acid changes identified in FAP and non-FAP patients; 13 patients with an unknown status are yet to be sequenced.