Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterparts

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 reporte...

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Bibliographic Details
Published in:PloS one 2013-09, Vol.8 (9), p.e73484-e73484
Main Authors: Suzuki, Ayako, Mimaki, Sachiyo, Yamane, Yuki, Kawase, Akikazu, Matsushima, Koutatsu, Suzuki, Makito, Goto, Koichi, Sugano, Sumio, Esumi, Hiroyasu, Suzuki, Yutaka, Tsuchihara, Katsuya
Format: Article
Language:English
Subjects:
Adenocarcinoma
Adenocarcinoma - genetics
Adenocarcinoma of Lung
Analysis
Asian Continental Ancestry Group - genetics
Ataxia telangiectasia mutated protein
Cancer
Cost analysis
Data processing
Epidermal growth factor receptors
Female
Gene sequencing
Genes
Genetic aspects
Humans
Insulin-like growth factors
K-Ras protein
Lung cancer
Lung Neoplasms - genetics
Male
Minority & ethnic groups
Mutation
Mutation - genetics
Rodents
Studies
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0073484