Table 3.
Pathogenic, germline and missense single nucleotide variations (SNV) in genes mutated in calcitonin- producing pancreatic neuroendocrine neoplasms tissue (CT-pNEN) tumors not previously described in other pancreatic neuroendocrine neoplasms tissue (pNEN) (28-33).
| Gene | Mutation type | Position | ClinVar | Patient ID |
|---|---|---|---|---|
| ABCC6 | c.3803G>A | chr16:16157742 | Pathogenic | T882 |
| ABCC6 | chr16:16185006 | Pathogenic | T882, T728 | |
| ABCC6 | chr16:16187150 | Pathogenic | T882 | |
| CST3 | c.73G>A | chr20:23637790 | Pathogenic | T879, T882 |
| HFE | c.187C>G | chr6:26090951 | Pathogenic,_other,_risk_factor | T882 |
| IL4R | c.223A>G | chr16:27344882 | Pathogenic,_protective | T649, T879 |
| CCDC114 | c.742G>A | chr19:48303953 | Pathogenic | T879 |
| TYMP | c.866A>C | chr22:50526638 | Pathogenic | T879 |
| STOX1 | c.1824A>C | chr10:68885620 | Pathogenic | T879 |
| ABCA4 | c.5338C>G | chr1:94014665 | Pathogenic | T728 |
| PIK3CA | chr14:94378610 | Pathogenic/Likely_pathogenic | T471 | |
| DPYD | c.85T>C | chr1:97883329 | Pathogenic | T728, T879, T882 |
| APOA4 | chr11:116820918 | Pathogenic | T649 | |
| C1GALT1C1 | chrX:120626774 | Pathogenic | T879, T882 | |
| COQ4 | c.718C>T | chr9:128333565 | Pathogenic | T882 |
| TGFBI | c.1501C>A | chr5:136055770 | Pathogenic | T649 |
| ASB10 | chr7:151186916 | Pathogenic | T879 | |
| FGFR4 | c.1162G>A | chr5:177093242 | Pathogenic | T471, T728, T879 |
| SERPINA1 | chr3:179218294 | Pathogenic | T471 | |
| KLKB1 | c.428A>G | chr4:186236880 | Pathogenic | T649, T728, T879 |