APC germline mutation | Somatic mutation | Gender, age at diagnosis | FAP association | Lymph node metastasis | Distant metastasis (age) | Other tumors | Histological type | Reference |
---|---|---|---|---|---|---|---|---|
A 5-bp deletion at position 3183 (codon 1061) | None | F, 20 | FAP-associated | None | Bone (50) | Medulloblastoma (age 6) | Mixed follicular carcinoma and medullary thyroid carcinoma, positive staining for calcitonin | [41] |
Heterozygous APC Ex 2–3 duplication | APC homozygous silent p.Thr1493Thr gene variant; RET/PTC rearrangement | M, 42 | FAP-associated | None | Lung; brain (43) | Osteomas | Cribriform-morular variant of papillary thyroid carcinoma, showing neuroendocrine differentiation | [38] |
None | APC p.Cys520Tyr_fsX534 | F, 35 | sporadic | None | Lung; brain (35) | None | CMV-PTC and Poorly differentiated thyroid carcinoma (PDTC) | [52] |
None | TERT promoter mutation | F, 45 | sporadic | 5/23 | Bone | None | CMV-PTC | [53] |
APC gene mutation (stop codon at codon 325) | Not reported | F, 24 | FAP-associated | None | Lung (27) | None | CMV-PTC | [50] |