Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients

Molecular Cancer

Research

Qian Huang¹  Kui Zhang²  Shaoqin Shi³  Yangkun Luo⁴  Yalun Li⁵  Yanqi He⁵  Zhixin Qiu⁵  Weimin Li⁵  Bin Zhou⁶ 

[1] Department of Clinic Laboratory, Chengdu Tumor Hospital, 610041, Chengdu, China;Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, 610041, Chengdu, China;Department of Immunology, West China School of Preclinical and Forensic Medicine, Sichuan University, 610041, Chengdu, China;Department of Radiation Oncology, The Second People’s Hospital of Sichuan, 610041, Chengdu, China;Department of Respiratory Medicine, West China Hospital of Sichuan University, 37 Guoxue Xiang, 610041, Chengdu, Sichuan, China;Laboratory of Molecular Translational Medicine, West China Institute of Women and Children’s Health, The Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, 610041, Chengdu, China;

关键词: Lung cancer;    Gene mutation;    PROM1;    CRTC2;    Whole genome exome sequencing;   

DOI  :  10.1186/1476-4598-13-19

 received in 2013-09-30, accepted in 2014-01-21,  发布年份 2014

来源: Springer

【 摘 要 】

BackgroundGenetic alterations could be responsible lung cancer, the leading cause of worldwide cancer death.MethodsThis study investigated gene mutations in a Han Chinese family of lung cancer using the whole genome exome sequencing and subsequent Sanger sequencing validation and then confirmed alteration of prominin 1(PROM1) and cyclic AMP-response element binding protein-regulated transcription co-activator2 (CRTC2) in blood samples of 343 sporadic lung cancer patients vs. 280 healthy controls as well as in 200 pairs of lung cancer and the corresponding normal tissues using PCR-restriction fragment length polymorphism and directed DNA sequencing of PCR products.ResultsThe data showed PROM1 (p. S281R) and CRTC2 (p. R379C) mutations, in 5 and 2 cases of these 343 sporadic lung cancer patients, respectively. Notably, these mutations were absent in the healthy controls. Furthermore, in the 200 lung cancer and the matched normal tissues, PROM1 mutation occurred in 3 patients (i.e., one squamous cell carcinoma and two adenocarcinomas) with a mutation frequency of 1.5%, while CRTC2 mutation occurred in 5 patients (two squamous cell carcinomas and three adenocarcinomas) with a mutation frequency of 2.5%.ConclusionsThe data from the current study demonstrated novel PROM1 and CRTC2 mutations, which could promote lung cancer development.

【 授权许可】

Unknown   
© He et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.