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. 2019 Jan 31;37(8):647–657. doi: 10.1200/JCO.18.00696

FIG 2.

FIG 2.

Comparison of paired tumor/germline testing outcome for patients with mismatch repair deficient (MMRd) tumors by germline testing history. (A) Overall distribution of paired testing results in patients with MMRd tumors. (B) Paired testing outcomes after removing patients with germline Lynch syndrome mutations and MLH1 promoter hypermethylation from each group. Inconclusive: patients in whom abnormal immunohistochemistry (IHC) result is unexplained by somatic or germline findings. Double somatic: patients with somatic inactivation of an MMR gene as a result of double somatic mutations (or single somatic mutation with copy-neutral loss of heterozygosity) in the same gene and concordant with IHC result. MLH1 promoter hypermethylation (MPH): patients with MLH1 promoter hypermethylation identified as explanatory for MMRd. Germline mutation: patients with a germline MMR mutation/likely pathogenic variant. Group 1 without previous testing: patients in whom germline testing of one or more MMR genes, either in whole or in part, was not previously performed. Group 2 with previous testing: patients in whom germline testing of one or more MMR genes was previously performed.