title: Combined germline variations of thrombophilic genes promote genesis of lung cancer.
abstract: 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.
  
  
  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.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey E-mail : ozdemir615@yahoo.com.
authors.forename: Filiz
authors.initials: F
authors.lastname: Ozen
authors.forename: Fikriye
authors.initials: F
authors.lastname: Polat
authors.forename: Sulhattin
authors.initials: S
authors.lastname: Arslan
authors.forename: Oztürk
authors.initials: O
authors.lastname: Ozdemir
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001057:Apolipoproteins E / Q000235:genetics; D014408:Biomarkers, Tumor / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008175:Lung Neoplasms / Q000209:etiology*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D011379:Prognosis; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications* / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D014408:Biomarkers, Tumor; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A