Identification and validation of PROM1 and CRTC2 mutations in lung cancer patientsReport as inadecuate

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Molecular Cancer

, 13:19

First Online: 31 January 2014Received: 30 September 2013Accepted: 21 January 2014DOI: 10.1186-1476-4598-13-19

Cite this article as: He, Y., Li, Y., Qiu, Z. et al. Mol Cancer 2014 13: 19. doi:10.1186-1476-4598-13-19


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 1PROM1 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.

KeywordsLung cancer Gene mutation PROM1 CRTC2 Whole genome exome sequencing Electronic supplementary materialThe online version of this article doi:10.1186-1476-4598-13-19 contains supplementary material, which is available to authorized users.

Yanqi He, Yalun Li contributed equally to this work.

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Author: Yanqi He - Yalun Li - Zhixin Qiu - Bin Zhou - Shaoqin Shi - Kui Zhang - Yangkun Luo - Qian Huang - Weimin Li


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