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العنوان
Impact of Thrombophilic Gene Mutations on Thrombosis Risk in Egyptian Non-Metastatic Cancer Patients/
المؤلف
Boshnak, Noha Hussein
هيئة الاعداد
باحث / نهي حسين بشناق
مشرف / مني أحمد وهبه
مشرف / مني أحمد إسماعيل
مشرف / زينب محمد عبد الحفيظ
مشرف / عبير عطية سعد الدين
مشرف / دينا محمد محمد حبشى
الموضوع
Thrombosis.<br>Non-Metastatic Cancer.
تاريخ النشر
2011
عدد الصفحات
212 p.
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الطب
تاريخ الإجازة
1/1/2011
مكان الإجازة
جامعة عين شمس - كلية الطب - الباثولوجيا الأكلينيكية
الفهرس
Only 14 pages are availabe for public view

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Abstract

Venous thromboembolic disease is an important source of morbidity and mortality in patients with cancer. The interactions of thrombosis and cancer are complex and involve issues related to pathogenic mechanisms, clinical presentation, prognosis and treatment.
Thrombosis is multicausal disease in which both acquired and genetic influences may play important roles. The most common polymorphism involved in the etiology of venous thrombosis is Factor V Leiden (FVL), where the guanine to adenine transition at nucleotide position 1691 in Factor V gene. This causes a lack of the cleavage site for activated protein C, resulting in activated protein C resistance.
The second most prevalent polymorphism linked to thrombophilia is considered to be the Prothrombin G20210A where guanine to adenine transition at nucleotide position 20210 in the 3-untranslated region of the prothrombin gene resulting in increased plasma levels of prothrombin. The third mutation is methylenetetrahydrofolate reductase (MTHFR) (C677T) which is associated to thermolabile phenotype, decreased enzyme activity and mild hyperhomocysteinemia.
The aim of this study was to determine the prevalence of FVL, PT and MTHFR gene polymorphisms in Egyptian non-metastatic cancer patients and to study the influence of these genetic abnormalities on thrombosis risk in those patients.
The current study included 40 Egyptian non metastatic cancer patients who were divided into two groups. The first group (group 1) was composed of 20 cancer patients who developed thrombotic complications during disease course. The control group (group 2) consisted of 20 cancer patients (with cancer duration not less than one year) who had no clinical evidence of thrombotic complications.
Three gene polymorphisms were determined by the method of polymerase-chain-reaction-based DNA analysis. The prevalence of FVL mutation in cancer patients with thromboembolism [6 out of 20 (30.0%)] did not differ significantly from those in cancer patients without thrombo-embolism [2 out of 20 (10.0%)] (P=0.23). PTG20210A was found in 5.0% and 10.0% of thrombotic and nonthrombotic patients, respectively, (P=0.99). MTHFR 677T was present in 45.0% and 25.0% of patients with and without thrombosis, respectively (P=0.32).