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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.

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