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Molecular Cancer
Published in: Molecular Cancer 1/2014

Open Access 01-12-2014 | Research

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

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

Published in: Molecular Cancer | Issue 1/2014

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Abstract

Background

Genetic alterations could be responsible lung cancer, the leading cause of worldwide cancer death.

Methods

This 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.

Results

The 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%.

Conclusions

The data from the current study demonstrated novel PROM1 and CRTC2 mutations, which could promote lung cancer development.
Appendix
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Metadata
Title
Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients
Authors
Yanqi He
Yalun Li
Zhixin Qiu
Bin Zhou
Shaoqin Shi
Kui Zhang
Yangkun Luo
Qian Huang
Weimin Li
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Molecular Cancer / Issue 1/2014
Electronic ISSN: 1476-4598
DOI
https://doi.org/10.1186/1476-4598-13-19

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