Journal Article

Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing

Pengyuan Liu, Carl Morrison, Liang Wang, Donghai Xiong, Peter Vedell, Peng Cui, Xing Hua, Feng Ding, Yan Lu, Michael James, John D. Ebben, Haiming Xu, Alex A. Adjei, Karen Head, Jaime W. Andrae, Michael R. Tschannen, Howard Jacob, Jing Pan, Qi Zhang, Francoise Van den Bergh, Haijie Xiao, Ken C. Lo, Jigar Patel, Todd Richmond, Mary-Anne Watt, Thomas Albert, Rebecca Selzer, Marshall Anderson, Jiang Wang, Yian Wang, Sandra Starnes, Ping Yang and Ming You

in Carcinogenesis

Volume 33, issue 7, pages 1270-1276
Published in print July 2012 | ISSN: 0143-3334
Published online April 2012 | e-ISSN: 1460-2180 | DOI:
Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing

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  • Clinical Cytogenetics and Molecular Genetics


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Lung cancer is the leading cause of cancer-related death, with non-small cell lung cancer (NSCLC) being the predominant form of the disease. Most lung cancer is caused by the accumulation of genomic alterations due to tobacco exposure. To uncover its mutational landscape, we performed whole-exome sequencing in 31 NSCLCs and their matched normal tissue samples. We identified both common and unique mutation spectra and pathway activation in lung adenocarcinomas and squamous cell carcinomas, two major histologies in NSCLC. In addition to identifying previously known lung cancer genes (TP53, KRAS, EGFR, CDKN2A and RB1), the analysis revealed many genes not previously implicated in this malignancy. Notably, a novel gene CSMD3 was identified as the second most frequently mutated gene (next to TP53) in lung cancer. We further demonstrated that loss of CSMD3 results in increased proliferation of airway epithelial cells. The study provides unprecedented insights into mutational processes, cellular pathways and gene networks associated with lung cancer. Of potential immediate clinical relevance, several highly mutated genes identified in our study are promising druggable targets in cancer therapy including ALK, CTNNA3, DCC, MLL3, PCDHIIX, PIK3C2B, PIK3CG and ROCK2.

Journal Article.  6334 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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