Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients.
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.
Department of Pharmacology and Toxicology and Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Donghai
D
Xiong
Guangming
G
Li
Kezhen
K
Li
Qinzi
Q
Xu
Zhongjie
Z
Pan
Feng
F
Ding
Peter
P
Vedell
Pengyuan
P
Liu
Peng
P
Cui
Xing
X
Hua
Hui
H
Jiang
Yuxin
Y
Yin
Ze
Z
Zhu
Xiaomian
X
Li
Bin
B
Zhang
Ding
D
Ma
Yian
Y
Wang
Ming
M
You
D034961:Antigens, Nuclear / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics*; D018797:Cell Cycle Proteins; D059472:Exome; D052138:Genes, Neoplasm; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D009154:Mutation; D011509:Proteoglycans / Q000235:genetics*; D000097722:Cohesins
D034961:Antigens, Nuclear; D018797:Cell Cycle Proteins; D011509:Proteoglycans; C575909:MXRA5 protein, human; C508565:STAG2 protein, human; D000097722:Cohesins