APC and Familial adenomatous polyposis: In FAP patients, we identified the causal PVs (c.3183_3187del, p.Lys1061_Gln1062insTer, and c.2016_2017del, p.Ile168SerTer11) in exon 18 of the APC gene, in 2 out of 5 patients confirming thus FAP diagnosis.