TABLE 4.
Summary of germline POLE mutations in colorectal cancer reported in published articles (2017–2020).
| Protein change | Nucleotide substitution | MSI/MMR statue | EDM | Family history | ACMG | Ref |
|---|---|---|---|---|---|---|
| T457M | c.1370C>T | NA | Y | NA | Uncertain significance | Siraj et al. (2020) |
| S314A | c.940T>G | NA | Y | Y | Uncertain significance | |
| H342Y | c.1024C>T | pMMR | Y | NA | Uncertain significance | |
| G395E | c.1184G>A | pMMR | Y | NA | Uncertain significance | |
| N363K | c.1089C>A | MSS | Y | Y | Pathogenicity | Vande Perre et al. (2019) |
| V411L | c.1231G>C | MSS | Y | NA | likely pathogenic | Wimmer et al. (2017) |
| V474I | c.1420G > A | pMMR | N | NA | likely pathogenic | Esteban-Jurado et al. (2017) |
| E277G | c.830A>G | pMMR | Y | Y | Pathogenicity | Rosner et al. (2018) |
| T278K | c.833C>A | pMMR | Y | Y | Pathogenicity | Castellsague et al. (2019) |
| L424V | c.1270C>G | NA | Y | NA | Pathogenicity | Elsayed et al. (2019) |
| L283* | c.849C > T | MSS | Y | NA | likely pathogenic | Lasabova et al. (2019) |
| Met294Arg | c.881T>G | pMMR | Y | Y | likely pathogenic | Mur et al. (2020) |
| Ala426Val | c.1277C>T | pMMR | Y | Y | Uncertain significance |
* : A silent mutation in codon p.L283 = (CTC >CTT).