Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients.
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.
Yanqi
Y
He
Yalun
Y
Li
Zhixin
Z
Qiu
Bin
B
Zhou
Shaoqin
S
Shi
Kui
K
Zhang
Yangkun
Y
Luo
Qian
Q
Huang
Department of Respiratory Medicine, West China Hospital of Sichuan University, 37 Guoxue Xiang, Chengdu, Sichuan 610041, China. weimi003@yahoo.com.
Weimin
W
Li
D000071916:AC133 Antigen; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D059472:Exome / Q000235:genetics; D005260:Female; D015894:Genome, Human; D006023:Glycoproteins / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010455:Peptides / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D000071916:AC133 Antigen; D015703:Antigens, CD; C493245:CRTC2 protein, human; D006023:Glycoproteins; C000606023:PROM1 protein, human; D010455:Peptides; D014157:Transcription Factors