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Table 2 Key characteristics of hypermutated gliomas

From: The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas

Tumor #pre vs post TMZIDH1 statusTMBMsh2Msh6Mlh1Pms2MMR mutations (AF)pattern of MMR IHC loss
1postWT>‚ÄČ50.0lostlostretainedretainedMSH2 stop gain (14.8%)
MSH2 stop gain (9.7%)
homogeneous
2postWT67.8lostlostretainedretainedMSH2 stop gain (33.0%)homogeneous
3postmut108.7retainedlostretainedretainedMSH6 stop gain (26.1%)
MSH6 frameshift (16.6%)
homogeneous
4postmut65.0retainedretainedlostlostPMS2 missense (7.2%)
MLH1 copy loss
heterogeneous
5postmut27.0lostlostretainedretainedMSH2 splice variant (37.8%)
MSH2 stop gain (7.7%)
homogeneous
6postWT58.0lostlostretainedretainedMSH6 stop gain (27.5%)
MSH6 missense (29.4%)
heterogeneous
7postmut70.5lostlostretainedretainedMSH2 stop gain (74.0%)heterogeneous
8postmut20.8lostlostretainedretainedPMS1 missense (32.5%)
MSH6 missense (11.2%)
heterogeneous
9postWT29.5retainedretainedretainedretainedATM splice variant (10.5%)none
  1. Tumor # corresponds to each specimen listed in Additional file 1: Table S1. TMB tumor mutation burden; AF allelic fraction; IHC immunohistochemistry