Table 3.
APC Germline Mutations in FAP-Associated Thyroid Carcinoma
| Author (reference) | APC Mutation | Codon | Exon | Polyposis Phenotype | Extracolonic Manifestations |
|---|---|---|---|---|---|
| Kashiwagi (21) | AAA→TAA | 848 | 15 | classical FAP | thyroid carcinoma, desmoid tumor, duodenal polyposis |
| Civitelli (19) | del ACAAA | 1061 | 15 | classical FAP | thyroid carcinoma, desmoid tumor, CHRPE, osteoma, duodenal polyposis, hepatoblastoma, dental abnormalities |
| Paraf (20) | del ACAAA | 1061 | 15 | classical FAP | thyroid carcinoma, desmoid tumor, duodenal polyposis, brain tumor, hepatoblastoma |
| Present study | del GA | 312 | 9 | AAPC | thyroid carcinoma |
| TTA→TGA | 698 | 15 | classical FAP | thyroid carcinoma, desmoid tumor, duodenal polyposis, osteoma, dental abnormalities, epidermoid cysts |
AAPC, attenuated adenomatous polyposis coli; CHRPE, congenital hypertrophic retinal pigment epithelium; del, deletion.