Fig. 2: Enrichment analysis of DNA repair genes.
From: Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma
(a) Enrichment of pathogenic germline damage repair gene (DRG) variants in individuals with urothelial carcinoma. Fisher’s exact test was used to calculate the odds ratios (ORs) and 95% confidence intervals (CIs). A two-sided binomial test was used to compute the p values. (b) Applying a false discovery rate of less than 0.05 (genes above the red dotted line), MSH2, ATM, MLH1, and BRCA2 showed significant enrichment of pathogenic germline variants in the urothelial carcinoma cohort compared with the corresponding cancer-free populations showing the highest frequency of variants for each gene.
