Multi-omic analysis in normal colon organoids highlights MSH4 as a novel marker of defective mismatch repair in Lynch syndrome and microsatellite instability.
Matthew A M DevallMourad W AliStephen EatonDaniel J WeisenbergerMatthew J ReilleySteven M PowellLi LiGraham CaseyPublished in: Cancer medicine (2023)
Our findings implicate DNA methylation and gene expression differences of MSH4 as a marker of dMMR and as a potential novel biomarker of LS. Our study of LS colon organoids supports the hypothesis that dMMR exists in the colons of LS subjects prior to CRC.