IHC loss and germline path_MMR detection rates in all index samples tested
| All | Tested (n) | IHC loss | % | Tested germline (n) | Germline PV | % Germline | |
| MLH1 loss | 3694 | 348 | 9.42 | 191 | 66* | 34.55 | 63 MLH1, 3 PMS2 |
| PMS2 loss alone | 3694 | 33 | 0.89 | 26 | 19 | 73.08 | 19 PMS2 |
| MSH2 loss | 3694 | 198 | 5.36 | 166 | 90 | 54.22 | 79 MSH2, 11 MSH6 |
| MSH6 loss | 3694 | 215 | 5.82 | 176 | 102 | 57.95 | 51 MSH6, 51 MSH2 |
| Either MSH2 or MSH6 | 3694 | 291 | 7.88 | 239 | 130 | 54.39 | 79 MSH2, 51 MSH6 |
| Any loss | 3694 | 672 | 18.19 | 456 | 215 | 47.15 | |
| MSH6 loss alone | 3694 | 53 | 1.43 | 73 | 38 | 52.05 | 38 MSH6 |
| Tested (n) | Positive (n) | ||||||
| MLH1 loss hypermethylation | 268 | 167† | 62.3 | 57 | 1 | 1.75 | MLH1 |
| MLH1 loss BRAF c.1799T>A | 181 | 45 | 24.86 | 11 | 3 | 27.3 | |
| No loss | 3022 | 0 | 0 | 329 | 19 | 5.78 | 5 MLH1, 7 MSH2, 3 MSH6, 4 PMS2 |
*This rose to 65/134 (48.5%) unmethylated samples.
†One patient with colorectal cancer had germline MLH1 methylation.
EC, endometrial cancer; IHC, immunohistochemistry; PV, pathogenic variant.