Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients

外显子组测序发现 MXRA5 是一种新型癌症基因,在中国患者的非小细胞肺癌中经常发生突变

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作者:Donghai Xiong, Guangming Li, Kezhen Li, Qinzi Xu, Zhongjie Pan, Feng Ding, Peter Vedell, Pengyuan Liu, Peng Cui, Xing Hua, Hui Jiang, Yuxin Yin, Ze Zhu, Xiaomian Li, Bin Zhang, Ding Ma, Yian Wang, Ming You

Abstract

Lung cancer has become the top killer among malignant tumors in China and is significantly associated with somatic genetic alterations. We performed exome sequencing of 14 non-small cell lung carcinomas (NSCLCs) with matched adjacent normal lung tissues extracted from Chinese patients. In addition to the lung cancer-related genes (TP53, EGFR, KRAS, PIK3CA, and ROS1), this study revealed "novel" genes not previously implicated in NSCLC. Especially, matrix-remodeling associated 5 was the second most frequently mutated gene in NSCLC (first is TP53). Subsequent Sanger sequencing of matrix-remodeling associated 5 in an additional sample set consisting of 52 paired tumor-normal DNA samples revealed that 15% of Chinese NSCLCs contained somatic mutations in matrix-remodeling associated 5. These findings, together with the results from pathway analysis, strongly indicate that altered extracellular matrix-remodeling may be involved in the etiology of NSCLC.

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