Combined Germline Variations of Thrombophilic Genes Promote Genesis of Lung Cancer

Abstract

<b>Background:</b> A large variety of familiar and non-familiar lung carcinomas (LC) are caused by long termexposure to chemical carcinogens that are present in tobacco smoke. We aimed to investigate the prevalenceof 5 thrombophilic germ-line mutations in patients with lung carcinomas. Materials and <br/><b>Methods</b>:A total of 52LC patients and 212 healthy controls from same population were analyzed for FV Leiden, factor V H1299R(R2), PAI-1, MTHFR C677T, MTHFR A1298C, ACE I/D, and Apo E genes and compared. <br/><b>Results</b>: Overall,heterozygous and/or homozygous point mutations in FV Leiden Apo E2, PAI-1 and MTHFR C677T genes wereassociated with LC in the current cohort. There was no meaningful association between LC and ACE I/D genemarkers. <br/><b>Conclusions</b>: The current results showed that LC is related to combined thrombophilic gene mutationsand individuals with homozygosity of 4G in PAI-1 and MTHFR C677T genes and heterozygosity of FV Leiden,Apo E4 genes have a germ-line risk for LC tumorigenesis.