Somatic mutaome profile in human cancer tissues.
Somatic mutaome profile in human cancer tissues.
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DOI：
10.5808/gi.2013.11.4.239
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发表时间：
2013-12
影响因子：
--
通讯作者：
Yoon S
中科院分区：
文献类型：
--
作者：
Kim N;Hong Y;Kwon D;Yoon S
体细胞突变是癌症进展和肿瘤对抗癌剂的不同反应的主要原因。因此，我们必须获得和表征个体癌症亚型的全基因组突变谱。癌症基因组图谱数据库包括从不同的人类癌症组织产生的大量测序和组学数据。在本研究中，我们整合并分析了来自约3，000个组织样本的外显子组测序数据，并总结了每个不同癌症亚型和阶段的主要突变基因。在对11种主要癌症亚型的分析中，在大多数人类基因（约23，000个基因）中观察到了低频率的突变。大多数组织样本平均含有20-80个不同的突变基因。肺癌样本在不同的基因中显示出比其他癌症亚型更多的突变。在组织样本中，只有少数基因突变频率超过5%。有趣的是，在大多数癌症亚型中，非转移性和转移性样本之间的突变频率通常相似。在这12种主要突变中，TP 53、USH 2A、TTN和MUC 16基因在大多数癌症类型中是常见的，而BRAF、FRG 1B、PBRM 1和VHL显示出谱系特异性突变模式。本研究提供了一个有用的资源，以了解各种癌症类型中广泛的突变频率。
Somatic mutation is a major cause of cancer progression and varied responses of tumors against anticancer agents. Thus, we must obtain and characterize genome-wide mutational profiles in individual cancer subtypes. The Cancer Genome Atlas database includes large amounts of sequencing and omics data generated from diverse human cancer tissues. In the present study, we integrated and analyzed the exome sequencing data from ~3,000 tissue samples and summarized the major mutant genes in each of the diverse cancer subtypes and stages. Mutations were observed in most human genes (~23,000 genes) with low frequency from an analysis of 11 major cancer subtypes. The majority of tissue samples harbored 20-80 different mutant genes, on average. Lung cancer samples showed a greater number of mutations in diverse genes than other cancer subtypes. Only a few genes were mutated with over 5% frequency in tissue samples. Interestingly, mutation frequency was generally similar between non-metastatic and metastastic samples in most cancer subtypes. Among the 12 major mutations, the TP53, USH2A, TTN, and MUC16 genes were found to be frequent in most cancer types, while BRAF, FRG1B, PBRM1, and VHL showed lineage-specific mutation patterns. The present study provides a useful resource to understand the broad spectrum of mutation frequencies in various cancer types.