BAP1型
肾透明细胞癌
组蛋白
癌症研究
染色质重塑
生物
染色质
基因
突变
组蛋白甲基转移酶
脱氮酶
肾细胞癌
表观遗传学
遗传学
医学
肿瘤科
泛素
作者
Francesco Piva,Matteo Santoni,Marc Matrana,Suma Satti,Matteo Giulietti,Giulia Occhipinti,Francesco Massari,Liang Cheng,Antonio López-Beltrán,Marina Scarpelli,Giovanni Principato,Stefano Cascinu,Rodolfo Montironi
标识
DOI:10.1586/14737159.2015.1068122
摘要
Several novel recurrent mutations of histone modifying and chromatin remodeling genes have been identified in renal cell carcinoma. These mutations cause loss of function of several genes located in close proximity to VHL and include PBRM1, BAP1 and SETD2. PBRM1 encodes for BAF180, a component of the SWI/SNF chromatin remodeling complex, and is inactivated in, on average, 36% of clear cell renal cell carcinoma (ccRCC). Mutations of BAP1 encode for the histone deubiquitinase BRCA1 associated protein-1, and are present in 10% of ccRCCs. They are largely mutually exclusive with PBRM1 mutations. Mutations to SETD2, a histone methyltransferase, occur in 10% of ccRCC. BAP1- or SETD2-mutated ccRCCs have been associated with poor overall survival, while PBRM1 mutations seem to identify a favorable group of ccRCC tumors. This review describes the roles of PBRM1, BAP1 and SETD2 in the development and progression of ccRCC and their potential for future personalized approaches.
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