Translation termination mutations analysis on exon11 of the breast cancer gene 1 (BRCA1) in female breast cancer patients of Pahang Malaysia /

Breast cancer is one of the commonest cancers in Malaysian females. Looking for a molecular link between breast cancer, early onset gene 1 (BRCA1) mutations and the development of early onset breast cancer has been of major interest over the past two decades. BRCA1 gene is located on chromosome 17 b...

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Bibliographic Details
Main Author: Faisal, Ahmed Ghazi
Format: Thesis
Language:English
Published: Kuantan: Kulliyyah of Medicine, International Islamic University Malaysia, 2011
Subjects:
Online Access:Click here to view 1st 24 pages of the thesis. Members can view fulltext at the specified PCs in the library.
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040 |a UIAM  |b eng 
041 |a eng 
043 |a a-my--- 
050 0 0 |a RC280.B8 
100 1 |a Faisal, Ahmed Ghazi 
245 1 |a Translation termination mutations analysis on exon11 of the breast cancer gene 1 (BRCA1) in female breast cancer patients of Pahang Malaysia /  |c by Ahmed Ghazi Faisal 
260 |a Kuantan:   |b Kulliyyah of Medicine, International Islamic University Malaysia,   |c 2011 
300 |a xviii, 92 leaves :  |b ill. charts ;  |c 30cm. 
500 |a Abstracts in English and Arabic. 
500 |a "A thesis submitted in fulfilment of the requirement for the degree of Master of Medical Sciences."--On t.p. 
502 |a Thesis (MMDSC)--International Islamic University Malaysia, 2011. 
504 |a Includes bibliographical references (leaves 82-92). 
520 |a Breast cancer is one of the commonest cancers in Malaysian females. Looking for a molecular link between breast cancer, early onset gene 1 (BRCA1) mutations and the development of early onset breast cancer has been of major interest over the past two decades. BRCA1 gene is located on chromosome 17 belongs to a class of genes known as tumor suppressors, which maintain genomic integrity to prevent uncontrolled proliferation of cells. Previous studies have found several translation termination mutations that lead to the formation of truncated protein. The spectrum of mutations afflicting the BRCA1 gene has not been studied in the East Coast region of Peninsular Malaysia. The aim of this study was to investigate the presence of detectable germline translation termination mutations within nucleotide 790 until 1950 of the coding region of BRCA1 gene. Subsequently we aim to contribute any detected mutations to the Breast Cancer Information Core (BIC). Information regarding age and family history of breast or ovarian cancer were obtained from each patient and control. DNA extracted from the blood samples was screened for the presence of translation termination mutations in exon 11 (segment A) of the BRCA1 gene by the Protein Truncation Test (PTT). The PTT analysis did not detect any truncations, which indicate that there were no translation termination mutations in the BRCA1 gene segment investigated. These findings were subsequently verified by DNA sequencing analysis. Hence, this study concludes that there were no translation termination mutations within the studied segment of the BRCA1 gene in the studied population. Therefore we suggest other studies regarding other segments of exon 11 and other exons of the BRCA1 gene in addition to other types of mutations for future studies. 
596 |a 1 6 
650 0 0 |a Breast  |x Cancer Genetic aspects 
650 0 0 |a Breast  |v Case studies  |x Cancer 
650 0 0 |a Cancer in women  |z Malaysia Pahang 
650 0 0 |a Mutation (Biology) 
655 7 |a Theses, IIUM local 
690 |a Dissertations, Academic  |x Department of Basic Medical Sciences  |z IIUM 
710 2 |a International Islamic University Malaysia.  |b Department of Basic Medical Sciences 
856 4 |u https://lib.iium.edu.my/mom/services/mom/document/getFile/msHprWTFwMdhhlz7ysxEAfN8C5mNXVVh20121206084943625  |z Click here to view 1st 24 pages of the thesis. Members can view fulltext at the specified PCs in the library. 
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