Table 5.
POLE EDMs in ECs not described previously in the TCGA
| Protein change | No. of cases | Nucleotide substitution | Exon | MSI cases (%) | Mutation recurrent in EC | Mutation recurrent pan‐cancer | No. of benign results by in silico tools |
|---|---|---|---|---|---|---|---|
| A426V | 1 (2.4) | c.1277C>T | 13 | Unknown | Recurrent | Recurrent | 1 |
| A456G | 1 (2.4) | c.1367C>G | 14 | Unknown | Novel | Novel | 1 |
| A456V | 1 (2.4) | c.1367C>T | 14 | 0 (0) | Novel | Recurrent | 0 |
| D275V | 1 (2.4) | c.824A>T | 9 | Unknown | Novel | Novel | 0 |
| D287E | 2 (4.9) | c.861T>A/G | 9 | 1 (50) | Novel | Novel | 1 |
| D462E | 1 (2.4) | c.1386T>A/G | 14 | 0 (0) | Novel | Novel | 1 |
| F367C | 1 (2.4) | c.1100T>G | 11 | 0 (0) | Novel | Novel | 0 |
| F367L | 1 (2.4) | c.1101T>A/G | 11 | 1 (100) | Novel | Novel | 0 |
| F367V | 1 (2.4) | c.1099T>G | 11 | 0 (0) | Novel | Novel | 0 |
| G364V | 1 (2.4) | c.1091G>T | 11 | 1 (100) | Novel | Novel | 0 |
| G388S | 1 (2.4) | c.1162G>A | 12 | 0 (0) | Novel | Novel | 0 |
| H342R | 1 (2.4) | c.1025A>G | 11 | Unknown | Novel | Novel | 5 |
| L283F | 1 (2.4) | c.847C>T | 9 | 1 (100) | Novel | Novel | 1 |
| L424P | 1 (2.4) | c.1271T>C | 13 | 0 (0) | Novel | Novel | 0 |
| M299I | 1 (2.4) | c.897G>A/C/T | 9 | 0 (0) | Novel | Novel | 0 |
| M405I | 1 (2.4) | c.1215G>A/C/T | 12 | 0 (0) | Novel | Novel | 2 |
| P286L | 1 (2.4) | c.857C>T | 9 | 1 (100) | Novel | Recurrent | 0 |
| P286S | 1 (2.4) | c.856C>T | 9 | 0 (0) | Novel | Recurrent | 0 |
| P436S | 2 (4.9) | c.1306C>T | 13 | 1 (50) | Novel | Novel | 0 |
| P441L | 1 (2.4) | c.1322C>T | 13 | 0 (0) | Novel | Recurrent | 1 |
| R375Q | 1 (2.4) | c.1124G>A | 12 | 0 (0) | Novel | Novel | 1 |
| S297Y | 1 (2.4) | c.889T>G | 9 | 0 (0) | Novel | Recurrent | 0 |
| T323A | 1 (2.4) | c.967A>G | 10 | 1 (100) | Novel | Novel | 1 |
| T457M | 1 (2.4) | c.1370C>T | 14 | 0 (0) | Novel | Recurrent | 2 |
| T483I | 1 (2.4) | c.1448C>T | 14 | 0 (0) | Novel | Novel | 0 |