Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients

S. Yin; J. Yang; B. Lin; W. Deng; Y. Zhang; X. Yi; Y. Shi; Y. Tao; J. Cai; C.-I. Wu; G. Zhao; L.D. Hurst; J. Zhang; L. Hu; X. Kong

doi:10.1038/srep06036

Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients

S. Yin
, J. Yang
, B. Lin
, W. Deng
, Y. Zhang
, X. Yi
, Y. Shi
, Y. Tao
, J. Cai
, C.-I. Wu
, G. Zhao
, L.D. Hurst
, J. Zhang
, L. Hu
, X. Kong

Shanghai Jiao Tong University
Chinese Academy of Sciences
Chinese National Human Genome Center at Shanghai
Shanghai Chest Hospital

Research output: Contribution to journal › Article › peer-review

32 Citations (SciVal)

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Abstract

Lung cancer is the most common cause of cancer mortality worldwide, with an estimated 1.4 million deaths each year. Here we report whole-exome sequencing of nine tumor/normal tissue pairs from Chinese patients with non-small cell lung carcinoma (NSCLC). This allows us to identify a number of significantly mutated genes in NSCLC, which were highly enriched in DNA damage repair, NF-κ B pathway, JAK/STAT signaling and chromatin modification. Notably, we identify a histone-lysine methyltransferase gene, namely, MLL2, as one of the most significantly mutated genes in our screen. In a following validation study, we identify deleterious mutations of MLL2 in 12 out of 105 (11.4%) NSCLC patients. Additionally, reduced or lost expression of MLL2 was commonly observed in tumor tissues as compared with paired adjacent non-tumor tissues regardless of mutation status. Together, our study defines the landscape of somatic mutations in Chinese NSCLC and supports the role of MLL2 mutation in the pathogenesis of the disease.

Original language	English
Article number	6036
Journal	Scientific Reports
Volume	4
DOIs	https://doi.org/10.1038/srep06036
Publication status	Published - 12 Aug 2014

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@article{47018f8d2b9241588f13e305abdfbd77,

title = "Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients",

abstract = "Lung cancer is the most common cause of cancer mortality worldwide, with an estimated 1.4 million deaths each year. Here we report whole-exome sequencing of nine tumor/normal tissue pairs from Chinese patients with non-small cell lung carcinoma (NSCLC). This allows us to identify a number of significantly mutated genes in NSCLC, which were highly enriched in DNA damage repair, NF-κ B pathway, JAK/STAT signaling and chromatin modification. Notably, we identify a histone-lysine methyltransferase gene, namely, MLL2, as one of the most significantly mutated genes in our screen. In a following validation study, we identify deleterious mutations of MLL2 in 12 out of 105 (11.4\%) NSCLC patients. Additionally, reduced or lost expression of MLL2 was commonly observed in tumor tissues as compared with paired adjacent non-tumor tissues regardless of mutation status. Together, our study defines the landscape of somatic mutations in Chinese NSCLC and supports the role of MLL2 mutation in the pathogenesis of the disease.",

author = "S. Yin and J. Yang and B. Lin and W. Deng and Y. Zhang and X. Yi and Y. Shi and Y. Tao and J. Cai and C.-I. Wu and G. Zhao and L.D. Hurst and J. Zhang and L. Hu and X. Kong",

year = "2014",

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language = "English",

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T1 - Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients

AU - Yin, S.

AU - Yang, J.

AU - Lin, B.

AU - Deng, W.

AU - Zhang, Y.

AU - Yi, X.

AU - Shi, Y.

AU - Tao, Y.

AU - Cai, J.

AU - Wu, C.-I.

AU - Zhao, G.

AU - Hurst, L.D.

AU - Zhang, J.

AU - Hu, L.

AU - Kong, X.

PY - 2014/8/12

Y1 - 2014/8/12

N2 - Lung cancer is the most common cause of cancer mortality worldwide, with an estimated 1.4 million deaths each year. Here we report whole-exome sequencing of nine tumor/normal tissue pairs from Chinese patients with non-small cell lung carcinoma (NSCLC). This allows us to identify a number of significantly mutated genes in NSCLC, which were highly enriched in DNA damage repair, NF-κ B pathway, JAK/STAT signaling and chromatin modification. Notably, we identify a histone-lysine methyltransferase gene, namely, MLL2, as one of the most significantly mutated genes in our screen. In a following validation study, we identify deleterious mutations of MLL2 in 12 out of 105 (11.4%) NSCLC patients. Additionally, reduced or lost expression of MLL2 was commonly observed in tumor tissues as compared with paired adjacent non-tumor tissues regardless of mutation status. Together, our study defines the landscape of somatic mutations in Chinese NSCLC and supports the role of MLL2 mutation in the pathogenesis of the disease.

AB - Lung cancer is the most common cause of cancer mortality worldwide, with an estimated 1.4 million deaths each year. Here we report whole-exome sequencing of nine tumor/normal tissue pairs from Chinese patients with non-small cell lung carcinoma (NSCLC). This allows us to identify a number of significantly mutated genes in NSCLC, which were highly enriched in DNA damage repair, NF-κ B pathway, JAK/STAT signaling and chromatin modification. Notably, we identify a histone-lysine methyltransferase gene, namely, MLL2, as one of the most significantly mutated genes in our screen. In a following validation study, we identify deleterious mutations of MLL2 in 12 out of 105 (11.4%) NSCLC patients. Additionally, reduced or lost expression of MLL2 was commonly observed in tumor tissues as compared with paired adjacent non-tumor tissues regardless of mutation status. Together, our study defines the landscape of somatic mutations in Chinese NSCLC and supports the role of MLL2 mutation in the pathogenesis of the disease.

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UR - http://dx.doi.org/10.1038/srep06036

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DO - 10.1038/srep06036

M3 - Article

AN - SCOPUS:84905963343

SN - 2045-2322

VL - 4

JO - Scientific Reports

JF - Scientific Reports

M1 - 6036

ER -

Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients

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