Table 2.
MMR-deficient tumours | Subclonal loss N (%) | ||
Resections N (%) |
Biopsies N (%) |
Resections N (%) |
|
MLH1 promoter hypermethylation | 30 (40.5) | 2 (66.7) | 3 (42.9) |
Two somatic hits | 10 (13.5) | 0 | 1 (14.3) |
Lynch syndrome | 20 (27.0) | 0 | 0 |
MLH1 variant | 6 | ||
MSH2 variant | 7 | ||
PMS2 variant | 2 | ||
MSH6 variant | 5 | ||
MMR variants identified in tumour, normal tissue not available, but high variant allele frequency | 6 (8.1) | 0 | 0 |
MMR deficiency molecularly unexplained (no or only one somatic hit identified) | 8 (10.8) | 1 (33.3) | 3 (42.9) |
Total | 74 | 3 | 7 |