AbstractSplicing factors are affected by recurrent somatic mutations and copy number variations in several types of haematologic and solid malignancies, which is often seen as prima facie evidence that splicing aberrations can drive cancer initiation and progression. However, numerous spliceosome components also ‘moonlight’ in DNA repair and other cellular processes, making their precise role in cancer difficult to pinpoint.

摘要剪接因子受几种类型的血液和实体恶性肿瘤中反复发生的体细胞突变和拷贝数变异的影响，这通常被视为剪接畸变可以驱动癌症发生和发展的初步证据。然而，许多剪接体成分在DNA修复和其他细胞过程中也“月光”，使得它们在癌症中的确切作用难以确定。

Still, few would deny that dysregulated mRNA splicing is a pervasive feature of most cancers. Correctly interpreting these molecular fingerprints can reveal novel tumour vulnerabilities and untapped therapeutic opportunities. Yet multiple technological challenges, lingering misconceptions, and outstanding questions hinder clinical translation.

尽管如此，很少有人会否认失调的mRNA剪接是大多数癌症的普遍特征。正确解释这些分子指纹可以揭示新的肿瘤脆弱性和未开发的治疗机会。然而，多重技术挑战，挥之不去的误解和悬而未决的问题阻碍了临床翻译。

To start with, the general landscape of splicing aberrations in cancer is not well defined, due to limitations of short-read RNA sequencing not adept at resolving complete mRNA isoforms, as well as the shallow read depth inherent in long-read RNA-sequencing, especially at single-cell level. Although individual cancer-associated isoforms are known to contribute to cancer progression, widespread splicing alterations could be an equally important and, perhaps, more readily actionable feature of human cancers.

首先，由于短读RNA测序不擅长解析完整的mRNA同种型的局限性，以及长读RNA测序固有的浅读深度，癌症中剪接畸变的一般情况尚不明确，特别是在单细胞水平。尽管已知单个与癌症相关的同工型会导致癌症进展，但广泛的剪接改变可能是人类癌症的一个同等重要且可能更容易采取行动的特征。

This is to say that in addition to ‘repairing’ mis-spliced transcripts, possible therapeutic avenues include exacerbating splicing aberration with small-molecule spliceosome inhibitors, targeting recurrent splicing aberrations with synthetic lethal approaches, and training the immune system to recognize splicing-derived neoantigens..

这就是说，除了“修复”错误剪接的转录本外，可能的治疗途径还包括用小分子剪接体抑制剂加剧剪接畸变，用合成致死方法靶向复发性剪接畸变，以及训练免疫系统识别剪接衍生的新抗原。。

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Fig. 1: Splicing factor alterations in human tumours.Fig. 2: Four key steps towards clinical translation of mRNA splicing research.Fig. 3: Strategies that target mRNA splicing in cancer.

图1：人类肿瘤中的剪接因子改变。图2:mRNA剪接研究临床翻译的四个关键步骤。图3：靶向癌症中mRNA剪接的策略。

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Sun，Y.，Yan，L.，Guo，J.，Shao，J。＆Jia，R。通过反义寡核苷酸下调SRSF3使口腔鳞状细胞癌和乳腺癌细胞对紫杉醇治疗敏感。癌症化疗。药理学。841133-1143（2019）。文章

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Download referencesAcknowledgementsThe authors thank the Forbeck Foundation for supporting the Forbeck Forum on Therapeutic Targeting of mRNA Splicing in Cancer (co-chairs: A.T.-T. and O.A.). Relevant research in the authors’ laboratories was supported by National Institutes of Health (NIH) grants (R01HL167071 and R01GM140735 to K.M.N.; K08CA245242 to S.X.L.; U01CA232563 to A.T.-T.; R01CA248317, R01GM138541, R21AG080243 and P30CA034196 to O.A.; R35GM136426 to D.B.; R01CA249204 and P30CA196521 to E.G.; R35GM131876 and R01CA182467 to C.C.), CureSearch For Children’s Cancer Acceleration Initiative Grant (to A.T.T.), Emerson Collective Grant (to A.T.T.), Doris Duke Clinical Scientist Development Award (to S.X.L.), Scott R.

下载参考文献致谢作者感谢福贝克基金会支持福贝克癌症mRNA剪接治疗靶向论坛（联合主席：A.T.-T.和O.A.）。作者实验室的相关研究得到了美国国立卫生研究院（NIH）的资助（R01HL167071和R01GM140735授予K.M.N.；K08CA245242授予S.X.L.；U01CA232563授予A.T.-T.；R01CA248317，R01GM138541，R21AG080243和P30CA034196授予O.A.；R35GM136426授予D.B.；R01CA249204和P30CA196521授予E.G.；R35GM131876和R01CA182467授予C.C.）癌症加速计划拨款（给A.T.T.），艾默生集体拨款（给A.T.T.），多丽丝·杜克临床科学家发展奖（给S.X.L.），斯科特·R。

MacKenzie Foundation Grant (to O.A.), JAX Brooks Scholar award (to B.L.A.), European Innovation Council (to J.V.), European Research Council (to J.V.), Asociación Española Contra el Cáncer (to J.V.) and Australian National Health and Medical Research Council Grant (2018833 to E.E.). C.C. is a CPRIT Scholar in Cancer Research (RR160009).Author informationAuthors and AffiliationsThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USAOlga Anczukow & Brittany L.

麦肯齐基金会拨款（授予O.A.）、JAX布鲁克斯学者奖（授予B.L.A.）、欧洲创新委员会（授予J.V.）、欧洲研究委员会（授予J.V.）、Asociación Española Contra el Cáncer（授予J.V.）和澳大利亚国家卫生与医学研究委员会拨款（授予E.E.2018833）。C、 C.是CPRIT癌症研究学者（RR160009）。作者信息作者和附属机构杰克逊基因组医学实验室，法明顿，康涅狄格州，USAOlga Anczukow＆Brittany L。

AngarolaDepartment of Biology, Eidgenössische Technische Hochschule (ETH), Zürich, SwitzerlandFrédéric H.-T. AllainDepartment of Microbiology, Immunology, and Molecular Genetics, University of California Los Angeles, Los Angeles, CA, USADouglas L. BlackDepartment of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USAAngela N.

AngarolaDepartment of Biology，Eidgenössiche Technische Hochschule（ETH），Zürich，SwitzerlandFrédéric H.-T.AllainDepartment of Microbiology，Immunology，and Molecular Genetics，University of California Los Angeles，Los Angeles，CA，USADouglas L.Black加州大学圣克鲁斯分校生物分子工程系，加利福尼亚州圣克鲁斯。

BrooksDepartment of Molecular and Human Genetics, Lester & Sue Breast Center, Baylor College of Medicine, Houston, TX, USAChonghui ChengInstitute for Integrative Systems Biology, Spanish National Research Council, Paterna, S.

布鲁克斯分子与人类遗传学系，德克萨斯州休斯顿贝勒医学院Lester＆Sue乳房中心，USAChonghui Chengui综合系统生物学研究所，西班牙国家研究委员会，帕特纳，S。

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PubMed Google ScholarContributionsAll authors researched data for the article and contributed substantially to discussion of the content. O.A. and A.T.-T. wrote the article. All authors reviewed and/or edited the manuscript before submission.Corresponding authorsCorrespondence to.

PubMed谷歌学术贡献所有作者都研究了文章的数据，并为内容的讨论做出了重大贡献。O、 。所有作者在提交前都对稿件进行了审查和/或编辑。通讯作者通讯。

Olga Anczukow or Andrei Thomas-Tikhonenko.Ethics declarations

Olga Anczukow或Andrei Thomas Tikhonenko。道德宣言

Competing interests

相互竞争的利益

J.V. is a member of the Advisory Boards of Remix Therapeutics, Stoke Therapeutics and IntronX. K.M.W. is an adviser to and holds equity in Ribometrix, ForagR Medicines and A-Form Solutions. O.A. is a member of the Advisory Boards of Caeruleus Genomics.

J、 V.是Remix Therapeutics，Stoke Therapeutics和IntronX咨询委员会的成员。K、 M.W.是Ribometrix、ForagR Medicines和A-Form Solutions的顾问并持有其股权。O、 A.是Caeruleus Genomics咨询委员会的成员。

Peer review

同行评审

Peer review information

同行评审信息

Nature Reviews Cancer thanks Zefeng Wang, Yeun-Jun Chung and Reini Luco for their contribution to the peer review of this work.

Nature Reviews Cancer感谢王泽峰，钟延军和鲁科为这项工作的同行评审做出的贡献。

Additional informationPublisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.Related linksForbeck Forum on Therapeutic Targeting of mRNA Splicing in Cancer: https://www.forbeckforums.org/forums/therapeutic-targeting-of-mrna-splicing-in-cancerSupplementary informationSupplementary informationGlossaryAntisense oligonucleotides.

Additional informationPublisher的注释Springer Nature在已发布地图和机构隶属关系中的管辖权主张方面保持中立。癌症中mRNA剪接治疗靶向的相关链接Forbeck论坛：https://www.forbeckforums.org/forums/therapeutic-targeting-of-mrna-splicing-in-cancerSupplementary信息补充信息词汇反义寡核苷酸。

(ASOs) Short synthetic chemically modified single-stranded RNA molecules that can bind to specific RNA sequences and alter their splicing, structure, and expression.

（ASO）短的合成化学修饰的单链RNA分子，可以与特定的RNA序列结合并改变其剪接，结构和表达。

Branch point site

分支点站点

A nucleotide that performs a nucleophilic attack on the 5′ splice site in the first step of splicing.

在剪接的第一步中对5'剪接位点进行亲核攻击的核苷酸。

Exitrons

出口

Non-constitutive introns located within annotated protein-coding exons.

位于注释的蛋白质编码外显子内的非组成型内含子。

Exon junction complex (EJC)

外显子连接复合体（EJC）

A protein complex assembled on the spliced mRNA at the junction of two exons.

在两个外显子连接处的剪接mRNA上组装的蛋白质复合物。

Falsitrons

假髋关节

Artefactual alternative splicing events characterized by missing exonic fragments, which are only detected by reverse transcription-based protocols.

人工替代剪接事件的特征是缺少外显子片段，只有基于逆转录的协议才能检测到。

Heterogeneous nuclear ribonucleoprotein

异质核核糖核蛋白

(hnRNP) A member of a large family of RNA-binding proteins that regulate multiple RNA processing steps including alternative splicing.

（hnRNP）RNA结合蛋白大家族的成员，可调节多个RNA加工步骤，包括选择性剪接。

Microexons

微电

A class of exons shorter than 30 nucleotides.

一类短于30个核苷酸的外显子。

Nonsense-mediated mRNA decay

无义介导的mRNA衰变

(NMD) A translation-coupled quality control mechanism that removes mRNAs with premature termination codons.

。

Poison exon

An exon that introduces a premature termination codon when included in the spliced mRNA.

当包含在剪接的mRNA中时，引入过早终止密码子的外显子。

Poly(A) tails

Poly（A）尾巴

Long chains of adenine nucleotides added to the 3′ end of mRNA molecules to increase stability, export and contribute to their translation.

腺嘌呤核苷酸的长链添加到mRNA分子的3'端，以增加稳定性，输出并有助于其翻译。

Polypyrimidine tract

聚嘧啶束

A pyrimidine (C or T)-rich motif upstream of many 3′ splice sites that is bound by U2 small nuclear RNA auxiliary factor 2 (U2AF2) to facilitate 3′ splice site recognition.

。

Proteoforms

蛋白质形态

Variants of a protein, including variation due to alternative splicing.

蛋白质的变体，包括由于选择性剪接引起的变体。

R-loops

R形回路

Three-stranded nucleic acid structures consisting of an RNA molecule that has invaded duplex DNA.

由侵入双链DNA的RNA分子组成的三链核酸结构。

Serine–arginine-rich proteins

富含丝氨酸-精氨酸的蛋白质

A large family of RNA-binding proteins that contain one or two serine/arginine-rich domains and regulate multiple RNA processing steps including alternative splicing.

一大类RNA结合蛋白，包含一个或两个富含丝氨酸/精氨酸的结构域，并调节多个RNA加工步骤，包括选择性剪接。

Single guide RNA (sgRNA)

单引导RNA（sgRNA）

A short sequence of RNA used for genome editing, which acts as a guide for Cas9 endonucleases or other Cas proteins to cleave double stranded DNA.

用于基因组编辑的短RNA序列，可作为Cas9核酸内切酶或其他Cas蛋白切割双链DNA的指导。

Small nuclear ribonucleoprotein

小核核糖核蛋白

(snRNP) An RNA–protein complex that is part of the spliceosome.

（snRNP）是剪接体的一部分的RNA-蛋白质复合物。

Small nuclear RNA

小核RNA

(snRNA) An RNA component of the spliceosome.

（snRNA）剪接体的RNA成分。

Sm proteins

Sm蛋白

A family of small proteins that bind to RNA and are part of the spliceosome.

与RNA结合的小蛋白质家族，是剪接体的一部分。

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权利和许可Pringer Nature或其许可人（例如协会或其他合作伙伴）根据与作者或其他权利持有人的出版协议对本文拥有专有权；本文接受稿件版本的作者自行存档仅受此类出版协议和适用法律的条款管辖。转载和许可本文引用本文Anczukow，O.，Allain，F.HT.，Angarola，B.L。

et al. Steering research on mRNA splicing in cancer towards clinical translation..

等人。将癌症中mRNA剪接的研究转向临床翻译。。

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