The genomic landscapes of human breast and colorectal cancers
The genomic landscapes of human breast and colorectal cancers
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DOI：
10.1126/science.1145720
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发表时间：
2007-11-16
期刊：
影响因子：
56.9
通讯作者：
Vogelstein, Bert
中科院分区：
文献类型：
--
作者：
Wood, Laura D.;Parsons, D. Williams;Vogelstein, Bert
人类癌症是由癌基因和抑癌基因突变的积累引起的。为了对肿瘤发生过程中发生的遗传变化进行分类，我们从 11 个乳腺癌和 11 个结直肠肿瘤中分离出 DNA，并确定了这些样本的参考序列数据库中的基因序列。基于对代表 18,191 个基因的 20,857 个转录本的外显子的分析，我们得出结论，乳腺癌和结直肠癌的基因组图谱由少数常见突变的基因“山”和大量低频突变的基因“山”组成。我们描述了可能有助于识别在肿瘤发生中起作用的突变的统计和生物信息工具。这些结果对于理解人类癌症的性质和异质性以及使用个人基因组学进行肿瘤诊断和治疗具有重要意义。
Human cancer is caused by the accumulation of mutations in oncogenes and tumor suppressor genes. To catalog the genetic changes that occur during tumorigenesis, we isolated DNA from 11 breast and 11 colorectal tumors and determined the sequences of the genes in the Reference Sequence database in these samples. Based on analysis of exons representing 20,857 transcripts from 18,191 genes, we conclude that the genomic landscapes of breast and colorectal cancers are composed of a handful of commonly mutated gene "mountains" and a much larger number of gene "hills" that are mutated at low frequency. We describe statistical and bioinformatic tools that may help identify mutations with a role in tumorigenesis. These results have implications for understanding the nature and heterogeneity of human cancers and for using personal genomics for tumor diagnosis and therapy.