Combined germline variations of thrombophilic genes promote genesis of lung cancer

• Published in: Asian Pacific journal of cancer prevention : APJCP Vol. 14; no. 9; pp. 5449 - 5454
• Main Authors: Ozen, Filiz, Polat, Fikriye, Arslan, Sulhattin, Ozdemir, Oztürk
• Format: Journal Article
• Language: English
• Published: Thailand 01.01.2013
• Subjects: Aged; Aged, 80 and over; Apolipoproteins E - genetics; Biomarkers, Tumor - genetics; Case-Control Studies; Cohort Studies; DNA Mutational Analysis; Factor V - genetics; Female; Follow-Up Studies; Genetic Predisposition to Disease; Germ-Line Mutation - genetics; Heterozygote; Homozygote; Humans; Lung Neoplasms - etiology; Male; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Middle Aged; Peptidyl-Dipeptidase A - genetics; Plasminogen Activator Inhibitor 1 - genetics; Prognosis; Risk Factors; Thrombophilia - complications; Thrombophilia - genetics
• ISSN: 1513-7368; 2476-762X
• DOI: 10.7314/APJCP.2013.14.9.5449

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. 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. 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. 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.