Table 2

Summary frequencies of tumour MLH1 promoter methylation

Sample group*Number of studiesPositive MLH1 promoter methylationNegative MLH1 promoter methylationMLH1 promoter methylation frequency (95% CI)
Known positive MMR mutation status
 All MMR mutation carriers295838815.56% (9.17% to 23.27%)
MLH1 mutation carriers223925016.68% (8.58% to 26.81%)
MLH1 mutation carriers (A region tested)7218841.59% (13.80% to 72.71%)
MLH1 mutation carriers (C region tested)1281835.56% (2.21% to 10.30%)
Known negative MMR mutation status
 MSI-H, A region tested7618239.67% (17.70% to 64.11%)
 MSI-H, C region tested1236331747.07% (30.84% to 63.62%)
 MSI-H, A region tested MLH1 deficiency IHC5426631.92% (7.30% to 63.99%)
 MSI-H, C region tested MLH1 deficiency IHC812116439.81% (13.50% to 69.83%)
 MSS, A region tested45325916.54% (10.41% to 23.77%)
 MSS, C region tested234660.06% (0.00% to 2.19%)
  • * In some primary references, the A region is termed the 5′ region, and the C region is termed the 3′ region.