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[迈向癌症致癌突变目录]

[Towards an inventory of oncogenic mutations in cancer].

作者信息

Theillet C

机构信息

Institut de recherche en cancérologie de Montpellier, Université de Montpellier-I, Montpellier, France.

出版信息

Bull Cancer. 2010 Nov;97(11):1223-9. doi: 10.1684/bdc.2010.1200.

DOI:10.1684/bdc.2010.1200
PMID:21059490
Abstract

The discovery of oncogenes and tumor suppressors has established the original concept of cancer development based on a cascade of spontaneously occurring somatic mutations. It is now well known that genomes of cancer cells are deeply rearranged and that these rearrangements have devastating consequences on their organization and function. These rearrangements and their functional consequences are increasingly well characterized leading to the identification of numerous novel mutations, including a number of orphan mutations. The number of cancer genes has constantly been on the rise as a consequence of technological evolution. Starting from a couple of dozen founder genes, we are presently facing lists comprising several hundreds of genes. These correspond to genes affected by structural rearrangements or mutations, those modified at the epigenetic level and, more recently, miRNAs. The current challenge resulting from this brutal increase will be to sort out founder from passenger mutations and deduce the oncogenic cascades that correspond to each tumor phenotype.

摘要

癌基因和肿瘤抑制因子的发现确立了基于一系列自发发生的体细胞突变的癌症发展原始概念。如今众所周知,癌细胞的基因组发生了深度重排,并且这些重排对其组织结构和功能产生了毁灭性影响。这些重排及其功能后果得到了越来越充分的表征,从而导致鉴定出许多新的突变,包括一些孤儿突变。由于技术发展,癌症基因的数量一直在不断增加。从最初的几十种创始基因开始,我们目前面临的基因列表包含数百种基因。这些基因对应于受结构重排或突变影响的基因、在表观遗传水平上发生改变的基因,以及最近发现的微小RNA(miRNA)。这种急剧增加带来的当前挑战将是区分创始突变和过客突变,并推断出与每种肿瘤表型相对应的致癌级联反应。

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1
[Towards an inventory of oncogenic mutations in cancer].[迈向癌症致癌突变目录]
Bull Cancer. 2010 Nov;97(11):1223-9. doi: 10.1684/bdc.2010.1200.
2
[Gene polymorphisms].[基因多态性]
Bull Cancer. 2010 Nov;97(11):1253-64. doi: 10.1684/bdc.2010.1203.
3
Structural mutations in cancer: mechanistic and functional insights.癌症中的结构突变:机制和功能见解。
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[Discovery and clinical application of mutations in the cancer genome].[癌症基因组中突变的发现与临床应用]
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SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering.SomInaClust:基于失活和聚类的体细胞突变模式检测癌症基因。
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Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.癌基因和肿瘤抑制基因中突变热点的鉴定与分析。
Oncotarget. 2017 Mar 28;8(13):21290-21304. doi: 10.18632/oncotarget.15514.
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IDENTIFY CANCER DRIVER GENES THROUGH SHARED MENDELIAN DISEASE PATHOGENIC VARIANTS AND CANCER SOMATIC MUTATIONS.通过共享的孟德尔疾病致病变异和癌症体细胞突变来鉴定癌症驱动基因。
Pac Symp Biocomput. 2017;22:473-484. doi: 10.1142/9789813207813_0044.
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[Acquired mutations--basic cancer biology].[获得性突变——癌症基础生物学]
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Mutations and epimutations in the origin of cancer.癌症起源中的突变和表观遗传改变。
Exp Cell Res. 2012 Feb 15;318(4):299-310. doi: 10.1016/j.yexcr.2011.12.001. Epub 2011 Dec 13.
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Remarkable difference of somatic mutation patterns between oncogenes and tumor suppressor genes.癌基因和抑癌基因的体细胞突变模式存在显著差异。
Oncol Rep. 2011 Dec;26(6):1539-46. doi: 10.3892/or.2011.1443. Epub 2011 Sep 1.

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