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

Shanye Yin; Jing Yang; Bin Lin; Wenjun Deng; Yuchao Zhang; Xianfu Yi; Yufang Shi; Yong Tao; Jun Cai; Chung I. Wu; Guoping Zhao; Laurence D. Hurst; Jie Zhang; Landian Hu; Xiangyin Kong

doi:10.1038/srep06036

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

Shanye Yin, Jing Yang, Bin Lin, Wenjun Deng, Yuchao Zhang, Xianfu Yi, Yufang Shi, Yong Tao, Jun Cai, Chung I. Wu, Guoping Zhao, Laurence D. Hurst, Jie Zhang, Landian Hu, Xiangyin Kong

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

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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 (US)
Article number	6036
Journal	Scientific reports
Volume	4
DOIs	https://doi.org/10.1038/srep06036
State	Published - Aug 12 2014
Externally published	Yes

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@article{a2eb1887fafc49e1a9bec6d45362d082,

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 = "Shanye Yin and Jing Yang and Bin Lin and Wenjun Deng and Yuchao Zhang and Xianfu Yi and Yufang Shi and Yong Tao and Jun Cai and Wu, {Chung I.} and Guoping Zhao and Hurst, {Laurence D.} and Jie Zhang and Landian Hu and Xiangyin Kong",

note = "Funding Information: This work was supported by the National Basic Research Program of China (2011CB510102), the National Natural Science Foundation of China (No.30530450, 30871356), and the Knowledge Innovation Program of the Chinese Academy of Sciences (Grant No. KSCX1-YW-R-74). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.",

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day = "12",

doi = "10.1038/srep06036",

language = "English (US)",

volume = "4",

journal = "Scientific reports",

issn = "2045-2322",

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TY - JOUR

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

AU - Yin, Shanye

AU - Yang, Jing

AU - Lin, Bin

AU - Deng, Wenjun

AU - Zhang, Yuchao

AU - Yi, Xianfu

AU - Shi, Yufang

AU - Tao, Yong

AU - Cai, Jun

AU - Wu, Chung I.

AU - Zhao, Guoping

AU - Hurst, Laurence D.

AU - Zhang, Jie

AU - Hu, Landian

AU - Kong, Xiangyin

N1 - Funding Information: This work was supported by the National Basic Research Program of China (2011CB510102), the National Natural Science Foundation of China (No.30530450, 30871356), and the Knowledge Innovation Program of the Chinese Academy of Sciences (Grant No. KSCX1-YW-R-74). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

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

Abstract

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