Fig. 6
Gene expression signatures of DICER1 hotspot UCEC tumors. a Gene-set enrichment analysis (GSEA) on mRNA profiles of DICER1 RNase III hotspot cases in uterine corpus endometrial cancer (UCEC). Shown are all enriched sets in RNase III hotspot samples; five are miRNA target sets and two relate to Notch pathway targets. b The expression distributions of all enriched gene sets were preferentially upregulated in DICER1 mutants compared to wildtypes. HMGA2, a well-known oncogene and let-7 target, was the most-deregulated gene. c For each of the three mature-5p miRNA families, we saw consistent downregulation of 5p strand (green) and upregulation of 3p strand (red) miRNA members in DICER1 hotspot mutants. For the mature-3p miRNA families, both arms were downregulated in mutants. mut: DICER1 hotspot mutant; wt: DICER1 wildtype; Diff. Exp.: Differential expression (log2 ratio of mRNA/miRNA levels); p-value: The probability for the null hypothesis that the genes in the set are not differentially upregulated in mutants compared to wildtypes; FDR: p-value corrected for multiple hypothesis testing
