Cancer cells exhibit altered epigenome. It is well established that aberrant histone modifications, DNA methylation, and chromatin organization may deregulate oncogenes and tumor suppressors, and contribute significantly to cancer phenotypes. Recent large-scale exome and genome sequencing analyses of thousands of human cancer samples have identified driver mutations in genes encoding chromatin regulatory proteins that directly control chromatin modifications, nucleosome remodeling, and long-range chromatin interactions. These studies reveal a mechanistic link between genetic mutations and epigenetic alterations in cancer, and highlight the genetic basis for perturbed cancer epigenome. This review summarizes the current knowledge on chromatin regulators that are significantly mutated in human cancer, which include MLL1-4, SETD2, NSD1, UTX, SMCX, ARID5B, BAP1, ASXL1, CBP and p300, DNMT3A, TET2, IDH1 and IDH2, the SWI/SNF complex, CHD4, CHD8, CTCF, and the cohesin complex.
|Original language||English (US)|
|Title of host publication||Epigenetic Gene Expression and Regulation|
|Number of pages||25|
|State||Published - Jan 1 2015|
All Science Journal Classification (ASJC) codes