Combined Germline Variations of Thrombophilic Genes Promote Genesis of Lung Cancer

  • Ozen, Filiz (Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University) ;
  • Polat, Fikriye (Department of Elementary Sciences Education, Faculty of Education, Kocaeli University) ;
  • Arslan, Sulhattin (Department of Cheast, Faculty of Medicine, Cumhuriyet University) ;
  • Ozdemir, Ozturk (Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University)
  • Published : 2013.09.30


Background: A large variety of familiar and non-familiar lung carcinomas (LC) are caused by long term exposure to chemical carcinogens that are present in tobacco smoke. We aimed to investigate the prevalence of 5 thrombophilic germ-line mutations in patients with lung carcinomas. Materials and Methods:A total of 52 LC 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. Results: Overall, heterozygous and/or homozygous point mutations in FV Leiden Apo E2, PAI-1 and MTHFR C677T genes were associated with LC in the current cohort. There was no meaningful association between LC and ACE I/D gene markers. Conclusions: The current results showed that LC is related to combined thrombophilic gene mutations and 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.


A case control study;combined thrombophilic genes;lung cancer;germ-line variations


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