甲基转移酶
乳腺癌
表观遗传学
癌变
组蛋白
组蛋白甲基转移酶
EZH2型
癌症
组蛋白H3
增强子
遗传学
生物
癌症研究
基因
甲基化
转录因子
作者
Emily Tinsley,Philip Bredin,Sinéad Toomey,Bryan T. Hennessy,Simon J. Furney
标识
DOI:10.1016/j.trecan.2024.02.003
摘要
KMT2C and KMT2D are histone lysine methyltransferases responsible for the monomethylation of histone 3 lysine 4 (H3K4) residues at gene enhancer sites. KMT2C/D are the most frequently mutated histone methyltransferases (HMTs) in breast cancer, occurring at frequencies of 10–20% collectively. Frequent damaging and truncating somatic mutations indicate a tumour-suppressive role of KMT2C/D in breast oncogenesis. Recent studies using cell lines and mouse models to replicate KMT2C/D loss show that these genes contribute to oestrogen receptor (ER)-driven transcription in ER+ breast cancers through the priming of gene enhancer regions. This review provides an overview of the functions of KMT2C/D and outlines the recent clinical and experimental evidence of the roles of KMT2C and KMT2D in breast cancer development.
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