Characterization of germline mutations in familial lung cancer from the Chinese population

	Characterization of germline mutations in familial lung cancer from the Chinese population
	Cao Y5; Ma ZH 4; Li LW 4; Wang P 6; Kanwal M 2,5; Ding XJ 5; Chen Y 1,3; Huang YC1,3; huangych2001@aliyun.com
刊名	Gene
	2018
卷号	64 期号:X 页码:94-104
关键词	Familial Lung Cancer Germline Mutation Genetic Predisposition Whole Genome Sequencing Air Pollution Chinese Population
英文摘要	Compared with numerous studies of somatic mutations using sporadic lung cancer, the research into germline mutations using familial lung cancer (FLC) is limited. In the present study, we used FLC samples obtained from the Chinese population in highly air-polluted regions to screen for novel germline mutations in lung cancer. Through a whole genome sequencing (WGS) analysis of the nine subjects (four lung cancer patients and five normal family members of FLC), we obtained a whole genome dataset of DNA alterations in FLC samples. A total of 1218 genes were identified with mutations of multiple types. Subsequently, the top 12 highly mutated genes were selected for validation by polymerase chain reaction and DNA sequencing in an expanded sample set including FLC, sporadic lung cancer, and healthy population. Mutations of the five genes (ARHGEF5, ANKRD20A2, ZNF595, ZNF812, MYO18B) may be potential germline mutations of lung cancer. We also analyzed specific mutations within the 12 genes and found that some specific mutations within the MUC12, FOXD4L3 and FOXD4L5 genes showed higher frequencies in the samples of FLC and/or lung cancer tissue, compared with the healthy population. Moreover, some genes with copy number variation may be potentially associated with a predisposition to lung cancer. Furthermore, non-coding DNA alterations of the WGS data in FLC were systematically analyzed and arranged. Interestingly, we found that germline mutations also occurred in many genes of non-coding RNA. This study uncovered the mutation spectrum in FLC and provided important clues for the evaluation of the genetic susceptibility to lung cancer.
语种	英语
内容类型	期刊论文
源URL	[http://159.226.149.26:8080/handle/152453/12081]
专题	昆明动物研究所_分子病理学昆明动物研究所_计算生物与生物信息学
通讯作者	huangych2001@aliyun.com
作者单位	1.The International Cooperation Key Laboratory of Regional Tumor in High Altitude Area, Ministry of Education of the People's Republic of China, Kunming, China 2.Kunming College of Life Sciences, University of Chinese Academy of Sciences, Kunming, China 3.The International Cooperation Key Laboratory of Regional Tumor in High Altitude Area, Ministry of Education of the People's Republic of China, Kunming, China 4.Computational Biology and Medical Ecology Laboratory, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 5.Laboratory of Molecular and Experimental Pathology, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China 6.Department of Thoracic Surgery, The First People's Hospital of Yunnan Province, Kunming, China
推荐引用方式 GB/T 7714	Cao Y*,Ma ZH,Li LW,et al. Characterization of germline mutations in familial lung cancer from the Chinese population[J]. Gene,2018,64(X):94-104.
APA	Cao Y*.,Ma ZH.,Li LW.,Wang P.,Kanwal M.,...&huangych2001@aliyun.com.(2018).Characterization of germline mutations in familial lung cancer from the Chinese population.Gene,64(X),94-104.
MLA	Cao Y*,et al."Characterization of germline mutations in familial lung cancer from the Chinese population".Gene 64.X(2018):94-104.