Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers

doi:10.1186/1755-8794-7-32

科研成果详情

题名	Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers
作者	Sun, Zhifu 1; Wang, Liang 2; Eckloff, Bruce W 3; Deng, Bo 1,5; Wang, Yi1,6; Wampfler, Jason A.1; Jang, Jinsung 3; Wieben, Eric D.3; Jen, Jin 3; You, Ming 4; Yang, Ping 1
发表日期	2014-06-04
发表期刊	BMC MEDICAL GENOMICS 影响因子和分区
语种	英语
原始文献类型	Article
关键词	Lung adenocarcinoma of never smoker Somatic mutations Pathway deregulation Patient survival
其他关键词	SEQUENCING DATA ; RNA-SEQ ; CANCER ; VARIANTS ; GENOME ; ALIGNMENT
摘要	Background: Novel and targetable mutations are needed for improved understanding and treatment of lung cancer in never-smokers. Methods: Twenty seven lung adenocarcinomas from never smokers were sequenced by both exome and mRNA seq with respective normal tissues. Somatic mutations were detected and compared with pathway deregulation, tumor phenotypes and clinical outcomes. Results: Although somatic mutations in DNA or mRNA ranged from hundreds to thousands in each tumor, the overlap mutations between the two were only a few to a couple of hundreds. The number of somatic mutations from either DNA or mRNA was not significantly associated with clinical variables; however, the number of overlap mutations was associated cancer subtype. These overlap mutants were preferentially expressed in mRNA with consistently higher allele frequency in mRNA than in DNA. Ten genes (EGFR, TP53, KRAS, RPS6KB2, ATXN2, DHX9, PTPN13, SP1, SPTAN1 and MYOF) had recurrent mutations and these mutations were highly correlated with pathway deregulation and patient survival. Conclusions: The recurrent mutations present in both DNA and RNA are likely the driver for tumor biology, pathway deregulation and clinical outcomes. The information may be used for patient stratification and therapeutic target development.
资助项目	National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [CA80127, CA84354]; Mayo Foundation; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [R01CA084354, R01CA080127] Funding Source: NIH RePORTER
出版者	BMC
出版地	LONDON
ISSN	1755-8794
卷号	7 期号:1
DOI	10.1186/1755-8794-7-32
页数	11
WOS类目	Genetics & Heredity
WOS研究方向	Genetics & Heredity
WOS记录号	WOS:000338465400001
收录类别	SCIE ; SCOPUS
URL	查看原文
PubMed ID	24894543
SCOPUSEID	2-s2.0-84902810152
通讯作者地址	[Sun, Zhifu]Department of Health Sciences Research,Mayo Clinic,200 First St SW,United States
Scopus学科分类	Genetics;Genetics (clinical)
引用统计	被引频次：38[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/9891
专题	温州医科大学
通讯作者	Sun, Zhifu
作者单位	1.Department of Health Sciences Research,Mayo Clinic,200 First St SW,United States; 2.Department of Pathology,Medical College of Wisconsin,United States; 3.Medical Genome Facility,Mayo Clinic,United States; 4.Department of Pharmacology and Toxicology,Medical College of Wisconsin,United States; 5.Thoracic Surgery Department,Daping Hospital,Third Military Medical University,China; 6.Division of Preventive Medicine,School of Environmental Science and Public Health,Wenzhou Medical University,China
推荐引用方式 GB/T 7714	Sun, Zhifu,Wang, Liang,Eckloff, Bruce W,et al. Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers[J]. BMC MEDICAL GENOMICS,2014,7(1).
APA	Sun, Zhifu., Wang, Liang., Eckloff, Bruce W., Deng, Bo., Wang, Yi., ... & Yang, Ping. (2014). Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers. BMC MEDICAL GENOMICS, 7(1).
MLA	Sun, Zhifu,et al."Conserved recurrent gene mutations correlate with pathway deregulation and clinical outcomes of lung adenocarcinoma in never-smokers".BMC MEDICAL GENOMICS 7.1(2014).