A comprehensive catalogue of somatic mutations from a human cancer genome.
A comprehensive catalogue of somatic mutations from a human cancer genome.
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所有癌症都带有体细胞突变。这些体细胞改变中的一部分，被称为驱动突变，赋予了选择性生长优势，并与癌症发展有关，而其余的则是过客突变。在此，我们对来自同一个人的恶性黑色素瘤和淋巴母细胞系的基因组进行了测序，提供了来自单个癌症的首个全面的体细胞突变目录。该目录为了解塑造这种癌症基因组的力量提供了深刻的见解。主要的突变特征反映了由于紫外线暴露导致的DNA损伤，紫外线是恶性黑色素瘤的一个已知风险因素，而突变在基因组中的不均匀分布，在基因足迹处的发生率较低，这表明DNA修复优先针对转录区域进行。这些结果说明了癌症基因组序列揭示DNA损伤、修复、突变和选择过程痕迹的能力，这些过程在癌症出现症状前多年就已经在起作用。
All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implicated in cancer development, whereas the remainder are passengers. Here we have sequenced the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The catalogue provides remarkable insights into the forces that have shaped this cancer genome. The dominant mutational signature reflects DNA damage due to ultraviolet light exposure, a known risk factor for malignant melanoma, whereas the uneven distribution of mutations across the genome, with a lower prevalence in gene footprints, indicates that DNA repair has been preferentially deployed towards transcribed regions. The results illustrate the power of a cancer genome sequence to reveal traces of the DNA damage, repair, mutation and selection processes that were operative years before the cancer became symptomatic.
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DOI：
10.1038/nrc1299
发表时间：
2004-03
期刊：
Nature reviews. Cancer
影响因子：
--
作者：
通讯作者：
--
影响因子：
6.4
作者：
Ghadersohi, Ali;Odunsi, Kunle;Zhang, Shaozeng;Azrak, Rami G.;Bundy, Brian N.;Manjili, Masoud H.;Li, Fengzhi
通讯作者：
Li, Fengzhi
影响因子：
64.8
作者：
Futreal, PA;Kasprzyk, A;Stratton, MR
通讯作者：
Stratton, MR
DOI：
10.1007/978-0-387-77574-6_8
发表时间：
2008-01-01
期刊：
SUNLIGHT, VITAMIN D AND SKIN CANCER
影响因子：
--
作者：
Leiter, Ulrike;Garbe, Claus
通讯作者：
Garbe, Claus
DOI：
10.1016/s1011-1344(01)00198-1
发表时间：
2001-10-01
影响因子：
5.4
作者：
Armstrong, BK;Kricker, A
通讯作者：
Kricker, A