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. 2020 Oct 12;74(11):724–729. doi: 10.1136/jclinpath-2020-207040

Table 2.

Causes of mismatch repair (MMR) deficiency

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