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Table 1 Co-existed MLH1 hypermethylation and mismatch repair genes germline mutations

From: Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review

   IHC    
  Tumor MLH1 MSH2 MSH6 PMS2 MSI BRAF V600E mutation MLH1 promoter methylation Germline mutation
Hagen et al. [11] CRC N/A Wild-type + MSH2 mutation
Raymond et al. [12] CRC + MSI-H Wild-type + MSH6 mutation
Rahner et al. [13] CRC + + MSI-H N/A + MLH1 mutation
Yokoyama et al. EC + + N/A N/A + MLH1 mutation
  1. CRC colorecral cancer, EC uterine endometrial cancer, N/A not available