Figure 1.

The spectrum of APC mutations differs between classical FAP and HB patients.

Lollipop and density plot showing the distribution of APC germline mutations. A total of 3343 FAP-related APC mutations were obtained from the UMD-APC mutations database (http://www.umd.be/APC/, 3717 variants extracted in June 2018 and filtered for keeping only causal and likely causal mutations). Thirty HB-related APC mutations were obtained from the publication of Hirschman et al⁸ and added to the 12 mutations newly described in this paper. Exons of the APC gene and important domains of the APC protein are indicated, including the β-catenin binding domain (15 amino-acid repeats), the β-catenin degradation domain (20 amino-acid repeats), the axin binding domain (SAMP motifs), and the microtubule binding region (basic domain).