title: Impact of thrombophilic genes mutations on thrombosis risk in Egyptian nonmetastatic cancer patients.
abstract: Venous thromboembolism (VTE) is a common complication in cancer patients. Several genetic risk factors related to thrombophilia are known; however, their contributions to thrombotic tendency in cancer patients have conflicting results. We aimed to determine the prevalence of factor V Leiden (FVL), prothrombin (PTH) G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T gene polymorphisms in Egyptian nonmetastatic cancer patients and their influence on thrombosis risk in those patients. Factor V Leiden, PTH G20210A and MTHFR C677T polymorphisms were detected in 40 cancer patients with VTE (group 1) and 40 cancer patients with no evidence of VTE (group 2) by PCR-based DNA analysis. Factor V and MTHFR mutations were higher in group 1 than in group 2 (factor V heterozygous mutation: 20 vs. 7.5%, homozygous mutation: 10 vs. 2.5%; MTHFR heterozygous mutation: 40 vs. 25%, homozygous mutation 5 vs. 0%, respectively) (P = 0.03). Mortality rate was higher in group 1 (75%) than in group 2 (25%; P < 0.001). No difference was found between those groups regarding PTH mutation (P = 1). Mortality rate was higher in the presence of homozygous and heterozygous factor V mutation (100 and 82%, respectively) compared to the wild type (41%) (P = 0.0006). Having any of the three studied gene mutations worsened the overall survival (P = 0.0003). Cox regression proved that both thrombosis and presence of factor V mutation are independent factors affecting survival in cancer patients (P < 0.001 and P = 0.01, respectively). In conclusion, there is an association between factor V and MTHFR mutations and risk of VTE in Egyptian cancer patients. Thrombosis and presence of factor V mutation are independent factors that influence survival in those patients.
authors.affiliation: aDepartment of Clinical and Chemical Pathology bDepartment of Clinical Oncology and Nuclear Medicine, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
authors.forename: Mona Ahmed
authors.initials: MA
authors.lastname: Wahba
authors.forename: Mona Ahmed
authors.initials: MA
authors.lastname: Ismail
authors.forename: Abeer Attia
authors.initials: AA
authors.lastname: Saad
authors.forename: Deena Mohamed
authors.initials: DM
authors.lastname: Habashy
authors.forename: Zeinab Mohamed Abdel
authors.initials: ZM
authors.lastname: Hafeez
authors.forename: Noha Hussein
authors.initials: NH
authors.lastname: Boshnak
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D004534:Egypt / Q000453:epidemiology; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009369:Neoplasms / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000628:therapy; D016016:Proportional Hazards Models; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*; D013927:Thrombosis / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D054556:Venous Thromboembolism / Q000453:epidemiology / Q000209:etiology / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)