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Tumor testing by IHC and/or MSI analysis has been reported to generally detect abnormal DNA mismatch repair (MMR) protein expression in 15–25% of all patients with endometrial carcinomas. Subsequent to this, all MSI patients exhibiting loss of DNA MMR protein MLH1 expression can be further segregated using MLH1 gene methylation testing to identify those with somatic MLH1 promoter and those which are methylated at the MLH1 promoter, the latter requiring further testing with confirmatory germline mutational analysis.
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