Table 1.
Overview PMS2 variants
| Tumor characteristics | Variant | (Predicted) Protein effect | Exon | VAF | Class | Location PSVs in amplicon | Panel |
|---|---|---|---|---|---|---|---|
| CRC45, PMS2−, MSI-H | PMS2 c.(308 C > T/308=)† | p.(T103I) | 4 | 11% | 3 | c.299, c.298 | 2 |
| CRC38, MMR+, MSI-H | PMS2 c.325dupG | p.(E109fs) | 4 | 77% | 5 | c.299, c.298 | 2 |
| CRC31, PMS2−, MSI-H | PMS2 c.486delA | p.(L162fs) | 5 | 34% | 5 | c.406, c.418, c.429, c.452, c.478, c.492 | 1 |
| CRC48, PMS2−, MSI unknown | PMS2 c.619 G > T | p.(G207*) | 6 | 48% | 5 | NA | 1 |
| CRC67, PMS2−, MSI-H |
PMS2 c.903 G > T PMS2 c.1261 C > T |
p.(Y268*)^ p.(R421*) |
8 11 |
52% 26% |
4 5 |
NA c.1238_1239, c.1360_1361± |
1 |
| EC58, PMS2−, MSI unknown | PMS2 c.955 C > A | p.(P319T) | 9 | 41% | 3 | c.924, c.932, c.934 | 1 |
| EC55, PMS2−, MSI-H | PMS2 c.1687C > T† | p.(R563*) | 11 | 30% | 5 | c.1556, c.1559, c.1567, c.1688_1689 | 2 |
Tumor is shown as type of tumor, followed by age of onset. Tumors were screened with the diagnostics panel [1] or research panel [2], panel-information is shown in the Materials and Methods section
CRC colorectal cancer, EC endometrial cancer, MSI microsatellite instability, high (H) or unknown, PMS2− PMS2 negative staining, MMR+ positive IHC MMR staining, fs frameshift, VAF variant allele frequency, NA not applicable, this exon is unique, PSV paralogues sequence variant
*Stopcodon
±PSV is present in primer sequence
†POLE mutated tumor
^c.903 G > T was previously described to lead to an exon 8 skip (protein: p.(Y268*)) [29]