FIGURE 1

Schematic representation of APC gene and the particular position of the FAP mutations found in respect to the main domains of the coding sequence. APC gene is a 2843-aa protein containing an oligodimerization domain, armadillo repeats, three β-catenin–binding regions, seven 20-aa repeats, SAMP repeats, the basic domain, and the EB-1 binding site. Mutations on codons 169, 221, and 430 were localized between the oligodimerization domain and the armadillo repeats region; alterations on codons 701 and 728 mapped on the armadillo repeats region; and lesions on codons 842 and 912 harbored between the armadillo motifs and the β-catenin–binding sites. Chain termination on codon 1068 was situated between the first and second 15-aa repeats; alteration on codon 1166 maps on the third 15-aa repeats; and the frameshift on codon 1383 is localized on the second 20-aa motifs.