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 journalArticlepeer-review

28 Scopus citations

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 languageEnglish (US)
Article number6036
JournalScientific reports
Volume4
DOIs
StatePublished - Aug 12 2014
Externally publishedYes

ASJC Scopus subject areas

  • General

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