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العنوان
The association between genetic polymorphism of PTEN and risk for hepatocellular carcinoma (HCC) in chronic hepatitis C patients /
المؤلف
Bedira, Isis Samy El-morsy .
هيئة الاعداد
باحث / ايزيس سامي المرسي بديره
مشرف / ايمان عطيه التونسي
مناقش / خالد عبد المؤمن خليفه
مناقش / منال فوزى جبر غزلان
مناقش / ايمان عطيه التونسي
الموضوع
Liver Diseases. Liver Cancer. Carcinoma, Hepatocellular. Hepatitis C.
تاريخ النشر
2020.
عدد الصفحات
74 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
الكيمياء الحيوية (الطبية)
تاريخ الإجازة
1/1/2020
مكان الإجازة
جامعة المنوفية - كلية الطب - الباثولوجيا الاكلينيكة
الفهرس
Only 14 pages are availabe for public view

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from 88

Abstract

HCC is a major cause of morbidity and mortality; it is the sixth most common cancer world-wide, and fourth common cancer in Egypt. The third leading cause of cancer related deaths. Its prognosis is poor and early detection is of great importance.
Genetic host factors play an important role in HCC development. The most common form of genetic variation between individuals is SNP which correspond to a modification of a DNA sequence due to the change of a single nucleotide. Phosphatase and tensin (PTEN) is a tumor suppressor gene that regulates several crucial cell functions such as proliferation, survival, genomic stability and cell motility through both enzymatic and non-enzymatic activities and phosphatidyl inositol 3-kinase (PI3K)-dependent and -independent mechanisms.
PTEN gene is located on chromosome 10q23.3, has a total length of 200 kb. PTEN IVS4 polymorphism (rs3830675) type of insertion variant with an ATCTT insertion at 109 bp downstream of exon 4 in intron 4 was one of the common PTEN polymorphisms related to several cancers Also another variant of PTEN polymorphism which is SNPs rs701848 is associated with increased risk of several cancer. But in other studies, the relationship between cancer risk and PTEN SNPs rs701848 is controversial.
The aim of this work was to study significance of PTEN gene polymorphisms as a risk factor for hepatocellular carcinoma in chronic hepatitis C patients.
In this study we investigated 80 HCC patients, their age range from 43 to 65 years old and they were 53 males and 27 females. Also 60 cirrhotic patients, their age range from 42 to 70 years old and they were 29 males and 31 females. In addition to 60 healthy controls, their age range from 24 to 60 years old and they were 30 males and 30 females.
All patients were submitted to the followings: Full history taking including smoking history, Full clinical examinations for disease diagnosis, Radiological investigation including U/S and triphasic CT with contrast for tumor size, Child-Pugh classification and routine laboratory Investigations including: liver function tests, HCV antibody and HBs Ag by immune chemiluminescence, AFP by electro- chemiluminescence and PTEN polymorphisms (IVS4 and rs701848) was done by PCR- RFLP.
There was a significant increase frequency of (IVS4 rs3830675) (--) genotype in HCC patients (56%) compared to cirrhotic (11.7%) and control group (10%) and the combined dominant model (--/-+) was significantly higher than (++) genotype in HCC patients compared to cirrhotic and control groups. Regard the PTEN polymorphism rs 701848 (TT, TC or CC) and allele distributions (T or C) showed no significant difference among three studied groups.
There was no significant correlation between the different genotypes and clinic pathological features of HCC.