Number of tests | Test results | ||||
Number | Per cent | Number | Per cent | ||
Functional MMR tumour testing | |||||
Immunohistochemistry | 1391 | 17.5 | Abnormal | 422 | 30.3 |
Normal | 966 | 69.4 | |||
Failed/Unknown | 3 | 0.2 | |||
Microsatellite instability | 59 | 0.7 | Abnormal | 25 | 42.4 |
MSI-high | 23 | 39 | |||
MSI-low | 2 | 3.4 | |||
Normal | 34 | 57.6 | |||
MLH1 promoter methylation testing | |||||
MLH1 promoter methylation | 173 | 2.2 | Unmethylated (suggestive of LS) | 23 | 13.3 |
Methylated | 146 | 84.4 | |||
Failed/Unknown | 4 | 2.3 | |||
Germline MMR gene testing | |||||
Germline MMR gene testing | 76 | 1 | Pathogenic/Likely pathogenic | 23 | 30.3 |
Variant of uncertain significance | 4 | 5.3 | |||
Likely benign/Benign/No variant | 49 | 64.5 |
All tests and results for the cohort are counted, including those undertaken outside of the sequential three-step diagnostic testing pathway. For total tests in the cohort, percentages are presented as the number of tests/total cohort patients (7928). For test results, percentages are presented as result/number of patients tested.
LS, Lynch syndrome; MMR, mismatch repair; MSI, microsatellite instability.