Fig. 1

Mutations in KDM6A and SWI/SNF complex genes are common in muscle-invasive bladder cancer. a Exome-sequencing analysis of 138 bladder tumor patients from Roswell Park Comprehensive Cancer Center (Roswell Park) revealed mutations in several chromatin remodeling enzymes. KMD6A, a histone demethylase, responsible for removing trimethylation mark on H3K27 is mutated in 20% while SWI/SNF complex family members are mutated in 18% of tumors. Mutations include missense and nonsense mutations as well as frameshift deletions, insertions and in frame deletions. b RNA-sequencing of a 66 tumors revealed significant alterations in gene expression of EZH2 and members of the SWI/SNF complex. c z-scores of PRC2-regulated genes were lower in tumors with KDM6A and KDM6A/SWI/SNF mutations compared to tumors without any mutations or SWI/SNF mutations alone