Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterparts.
Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterparts.
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DOI：
10.1371/journal.pone.0073484
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Tsuchihara K
中科院分区：
文献类型：
--
作者：
Suzuki A;Mimaki S;Yamane Y;Kawase A;Matsushima K;Suzuki M;Goto K;Sugano S;Esumi H;Suzuki Y;Tsuchihara K
我们分析了来自97名日本肺腺癌患者的全外显子组测序数据，并确定了几个假定的癌症相关基因和途径。特别是，我们观察到癌症相关的突变模式在不同的种族群体之间存在显著差异。正如先前报道的那样，EGFR基因的突变是日本人的特征，而KRAS基因的突变在白种人中更为常见。此外，在分析过程中，我们发现无需对正常组织进行测序就可以检测到癌症特异性体细胞突变。使用217个外部日本外显子组数据集可以排除64%的种系变异。我们还表明，类似的方法可以用于其他三个民族，尽管歧视能力取决于民族。我们证明ATM基因和PAPPA2基因可以被鉴定为癌症预后相关基因。通过绕过正常组织对应物的测序，这种方法提供了一种有用的手段，不仅减少了测序的时间和成本，而且还分析了正常组织对应物不可用的存档样本。
We analyzed whole-exome sequencing data from 97 Japanese lung adenocarcinoma patients and identified several putative cancer-related genes and pathways. Particularly, we observed that cancer-related mutation patterns were significantly different between different ethnic groups. As previously reported, mutations in the EGFR gene were characteristic to Japanese, while those in the KRAS gene were more frequent in Caucasians. Furthermore, during the course of this analysis, we found that cancer-specific somatic mutations can be detected without sequencing normal tissue counterparts. 64% of the germline variants could be excluded using a total of 217 external Japanese exome datasets. We also show that a similar approach may be used for other three ethnic groups, although the discriminative power depends on the ethnic group. We demonstrate that the ATM gene and the PAPPA2 gene could be identified as cancer prognosis related genes. By bypassing the sequencing of normal tissue counterparts, this approach provides a useful means of not only reducing the time and cost of sequencing but also analyzing archive samples, for which normal tissue counterparts are not available.
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影响因子：
64.8
作者：
Bartkova, J;Horejsi, Z;Bartek, J
通讯作者：
Bartek, J
影响因子：
64.8
作者：
通讯作者：
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影响因子：
46.9
作者：
通讯作者：
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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：
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影响因子：
--
作者：
Brellier, Florence;Martina, Enrico;Chiquet-Ehrismann, Ruth
通讯作者：
Chiquet-Ehrismann, Ruth