Gene Expression Profiling of Mismatch Repair Deficient Intestinal Stem Cells

We have generated a gene signature of mismatch repair (MMR) deficient intestinal stem cells (ISCs) using whole-genome transcriptomics and proteomics from murine intestinal stem cells and epithelial non-stem cells in a Lynch syndrome mouse model (Msh2-fl/fl;Villin-Cre). Then we have validated this signature in RNA-seq data from LS normal unaffected mucosa (UM), adenomas (AD) and adenomas with high-grade dsyplasia (AD-HGD) and tumors (T). MMR status for LS tumors and adenomas with high-grade dysplasia was categorized as KO, for unaffected mucosa as HET and FAP samples as WT.