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Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia

Breast cancer is one of the commonest cancers in Malaysian females. Searching 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...

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Main Authors: Ahmed Ghazi, Faisal, M.I.A, Mustaffa, Salih, F, Nasser, Amjad
Format: Article
Language:English
Published: 2012
Subjects:
R Medicine (General)
Online Access:http://eprints.unisza.edu.my/2228/1/FH02-FPSK-16-07656.pdf
http://eprints.unisza.edu.my/2228/
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spelling my-unisza-ir.22282021-08-21T08:21:49Z http://eprints.unisza.edu.my/2228/ Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia Ahmed Ghazi, Faisal M.I.A, Mustaffa Salih, F Nasser, Amjad R Medicine (General) Breast cancer is one of the commonest cancers in Malaysian females. Searching 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 and known as a tumour suppressor gene maintaining genomic integrity to prevent uncontrolled proliferation of cells. Previous studies have found several translation termination mutations that led to the formation of truncated protein. The aim of this study was to investigate the presence of detectable germ-line 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 indicates that there were no translation termination mutations in the investigated BRCA1 gene segment. 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. 2012 Article NonPeerReviewed text en http://eprints.unisza.edu.my/2228/1/FH02-FPSK-16-07656.pdf Ahmed Ghazi, Faisal and M.I.A, Mustaffa and Salih, F and Nasser, Amjad (2012) Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia. Journal of advanced medical research, 2 (2). pp. 61-69. ISSN 2231-8313
institution Universiti Sultan Zainal Abidin
building UNISZA Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Sultan Zainal Abidin
content_source UNISZA Institutional Repository
url_provider https://eprints.unisza.edu.my/
language English
topic R Medicine (General)
spellingShingle R Medicine (General)
Ahmed Ghazi, Faisal
M.I.A, Mustaffa
Salih, F
Nasser, Amjad
Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
description Breast cancer is one of the commonest cancers in Malaysian females. Searching 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 and known as a tumour suppressor gene maintaining genomic integrity to prevent uncontrolled proliferation of cells. Previous studies have found several translation termination mutations that led to the formation of truncated protein. The aim of this study was to investigate the presence of detectable germ-line 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 indicates that there were no translation termination mutations in the investigated BRCA1 gene segment. 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.
format Article
author Ahmed Ghazi, Faisal
M.I.A, Mustaffa
Salih, F
Nasser, Amjad
author_facet Ahmed Ghazi, Faisal
M.I.A, Mustaffa
Salih, F
Nasser, Amjad
author_sort Ahmed Ghazi, Faisal
title Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_short Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_full Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_fullStr Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_full_unstemmed Translation termination mutations analysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_sort translation termination mutations analysis using the protein truncation test on exon11a of the brca1 gene in female breast cancer patients of pahang, malaysia
publishDate 2012
url http://eprints.unisza.edu.my/2228/1/FH02-FPSK-16-07656.pdf
http://eprints.unisza.edu.my/2228/
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score 13.211869

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