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Fig. 4 | Genome Medicine

Fig. 4

From: Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas

Fig. 4

Germline, somatic, and epigenetic alterations that influence somatic MSI burden. ac Volcano plots of gene-level association testing between germline LOF (a) somatic LOF (b) and somatic methylation (c) and somatic MSI burden. A total of 127 DDR genes were tested in 4987 individuals. Red dotted line represents Bonferroni significance cutoff. d Somatic expression of MLH1 and SHPRH in individuals with somatic methylation. **p < 0.001 as determined using a linear model to predict gene expression while accounting for cancer type. e, f Somatic SHPRH expression is significantly reduced (e Wilcox p = 0.0018), and somatic MSI is significantly increased (f, Wilcox p = 0.0067) in uterine tumors with SHPRH methylation. TPM transcripts per million. The number of individuals in each category is indicated in parentheses

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