RNA splicing factors as oncoproteins and tumour suppressors

被引：580

作者：

Dvinge, Heidi ^{[1
,2
]}

Kim, Eunhee ^{[3
]}

Abdel-Wahab, Omar ^{[3
,4
]}

Bradley, Robert K. ^{[1
,2
]}

机构：

[1] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Computat Biol Program, Seattle, WA 98109 USA

[2] Fred Hutchinson Canc Res Ctr, Basic Sci Div, Seattle, WA 98109 USA

[3] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA

[4] Mem Sloan Kettering Canc Ctr, Dept Med, Leukemia Serv, New York, NY 10065 USA

来源：

NATURE REVIEWS CANCER | 2016年 / 16卷 / 07期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ANALYSIS; METHYLTRANSFERASE GENE EZH2; LINKED SIDEROBLASTIC ANEMIA; MESSENGER-RNA; SR PROTEINS; PYRUVATE-KINASE; U2AF1; MUTATIONS; CANCER GENES; HNRNP-K; EVOLUTIONARY DYNAMICS;

D O I：

10.1038/nrc.2016.51

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

The recent genomic characterization of cancers has revealed recurrent somatic point mutations and copy number changes affecting genes encoding RNA splicing factors. Initial studies of these 'spliceosomal mutations' suggest that the proteins bearing these mutations exhibit altered splice site and/or exon recognition preferences relative to their wild-type counterparts, resulting in cancer-specific mis-splicing. Such changes in the splicing machinery may create novel vulnerabilities in cancer cells that can be therapeutically exploited using compounds that can influence the splicing process. Further studies to dissect the biochemical, genomic and biological effects of spliceosomal mutations are crucial for the development of cancer therapies targeted at these mutations.

引用

页码：413 / 430

页数：18

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