Table 2 Summary of APC germline mutations in FAP-TC patient cases reported in the literature
Codon no./mutation (# of patients) | Number of patients | Recurrence (# of patients) | CHRPE (# of patients) | Other ECM | Authors, year/references |
|---|---|---|---|---|---|
Codon 848 (2) | 2 | NR | Yes (2) | Desmoids; duodenal polyposis | H Kashiwagi, 1996 [39] |
Codons 313 (2), 698 (3) | 5 | Yes (2) | NR | endometrial cancer; R maxilla osteoma; UGI polyposis | Soravia C, 1999 [37] |
Codon 1110 (TCA to TGA), 175 (C deletion) | 2 | NR | Yes (1) | NR | Iwama T, 1999 [40] Miyaki M, 2000 [34] |
Codons 140, 593, 778, 976, 993, 1061 (n = 5), 1105, and 1309 (n = 2) | 13 | NR | Yes (11) | Hepatoblastoma | F. Cetta, 2000 [15] |
Codon 1061, 5-bp deletion at position 3183 | 1 | Yes | Yes | Medulloblastomas; duodenal polyps | Fenton PA, 2001 [41] |
Codons 159, 499, 1–804, 937–938, 686–1217, 1061 (2), 1068, 1275, 1309, 2092 (2) | 12 | NR | Yes (2) | UGI polyps; desmoid; sebaceous cyst; epidermoid cyst; lipoma; osteoma | Truta B, 2003 [28] |
Codon 512 | 1 | NR | NR | NR | Xu B, 2003 [35] |
Codon 278, (CAG to TAG, stop) | 2 | NR | NR | NR | Kameyama K, 2004 [42] |
Codon 1309: five nucleotides (AAAGA) were deleted | 2 | NR | Yes (1) | Stomach polyps; ampullar ulcer | Lee S, 2004 [29] |
Codon 554, CGA[Arg] to TGA[Stop] | 1 | NR | NR | NR | Uchino S, 2006 [43] |
heterozygous APC Ex 2–3 duplication mutation | 1 | Yes | No | Lung metastases; brain metastases | Cameselle-Teijeiro J, 2009 [38] |
c.3183_87delACAAA; del9-10 (del9080dup11) (3) | 4 | NR | NR | NR | A Martayan, 2010 [44] |
Codon 332 (R332X) | 1 | No | None | None | Steinhagen E, 2012 [45] |
Codons 917 T deletion; 1179–11,817-bp deletion; 1483 C deletion | 3 | NR | NR | NR | Kumamoto K, 2015 [46] |
Codons 159 (n = 2), 161, 302, 689, 964, 1068, and 1157, 1 deletion at APC locus | 9 | NR | NR | NR | Uchino S, 2016 [47] |
Codon737 p.(Tyr737*) | 1 | NR | NR | NR | Akaishi J, 2018 [48] |
Codon 935 | 1 | No | No | Bilateral breast fibromatosis in the context of silicone prosthetics | Silva S, 2018 [49] |
Codons 654, 769, 834, 1062, 1073, 1394 | 6 | NR | NR | NR | Park J, 2019 [32] |
Stop codon at codon 325 | 1 | Yes | NR | NR | Ito Y, 2019 [50] |
Codons 213 (2 from the same family (c.637C > T)), 1062 (2 from the unrelated family (c.3183_3187delACAAA)) | 4 | NR | NR | NR | de Oliveira JC, 2019 [51] |
Codons 471, 578, 582, 625, 704, 1062, 1068 (2), 1307, 1309, 1465, full gene deletion | 12 | NR | NR | Desmoid tumors; adrenal adenoma Ampullary cancer | Nieminen TT,2020 [30] |