Table 2.
Mutations in the APC gene: Relationship between genotype and phenotype in patients with familial adenomatous polyposis
| Families | Exon | Codon | Mutation | Phenotype1 | Ref. |
| Frameshift mutations | |||||
| FAP1 | 15 | 1061 | c.3183_3187delACAAA | Intermediate | Ficari et al[18], Jarry et al[19] |
| FAP2 | 15 | 1309 | c.3927_3931delAAAGA | Severe | Miyoshi et al[20], Jarry et al[19] |
| FAP5 | 15 | 1309 | c.3921_3925delAAAAG | Severe | Miyaki et al[21], Mulkens et al[22] |
| FAP1-FAP5 | 15 | 1319 | c.3956delC | Severe | Miyaki et al[21] |
1
According to Nieuwenhuis et al[16].