Translation termination mutations naalysis 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 1...

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Main Authors:	Alattraqchi, Ahmed Ghazi, Mustafa Mahmoud, Mohammed Imad Al-Deen, Falah, Salih, Mohammad Amjad, Nasser, Khin, Maung Maung, Kaderi, Mohd Arifin, Azzubaidi, Marwan Saad
Format:	Article
Language:	English
Published:	Design for Scientific Renaissance 2012
Subjects:	RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Online Access:	http://irep.iium.edu.my/24794/ http://irep.iium.edu.my/24794/ http://irep.iium.edu.my/24794/1/Publication.pdf

id	iium-24794
recordtype	eprints
spelling	iium-247942012-12-17T07:13:21Z http://irep.iium.edu.my/24794/ Translation termination mutations naalysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia Alattraqchi, Ahmed Ghazi Mustafa Mahmoud, Mohammed Imad Al-Deen Falah, Salih Mohammad Amjad, Nasser Khin, Maung Maung Kaderi, Mohd Arifin Azzubaidi, Marwan Saad RC0254 Neoplasms. Tumors. Oncology (including Cancer) 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. Design for Scientific Renaissance 2012-06 Article PeerReviewed application/pdf en http://irep.iium.edu.my/24794/1/Publication.pdf Alattraqchi, Ahmed Ghazi and Mustafa Mahmoud, Mohammed Imad Al-Deen and Falah, Salih and Mohammad Amjad, Nasser and Khin, Maung Maung and Kaderi, Mohd Arifin and Azzubaidi, Marwan Saad (2012) Translation termination mutations naalysis 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 http://www.sign-ific-ance.co.uk/dsr/index.php/JAMR
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English
topic	RC0254 Neoplasms. Tumors. Oncology (including Cancer)
spellingShingle	RC0254 Neoplasms. Tumors. Oncology (including Cancer) Alattraqchi, Ahmed Ghazi Mustafa Mahmoud, Mohammed Imad Al-Deen Falah, Salih Mohammad Amjad, Nasser Khin, Maung Maung Kaderi, Mohd Arifin Azzubaidi, Marwan Saad Translation termination mutations naalysis 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	Alattraqchi, Ahmed Ghazi Mustafa Mahmoud, Mohammed Imad Al-Deen Falah, Salih Mohammad Amjad, Nasser Khin, Maung Maung Kaderi, Mohd Arifin Azzubaidi, Marwan Saad
author_facet	Alattraqchi, Ahmed Ghazi Mustafa Mahmoud, Mohammed Imad Al-Deen Falah, Salih Mohammad Amjad, Nasser Khin, Maung Maung Kaderi, Mohd Arifin Azzubaidi, Marwan Saad
author_sort	Alattraqchi, Ahmed Ghazi
title	Translation termination mutations naalysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_short	Translation termination mutations naalysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_full	Translation termination mutations naalysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_fullStr	Translation termination mutations naalysis 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 naalysis using the protein truncation test on Exon11A of the BRCA1 gene in female breast cancer patients of Pahang, Malaysia
title_sort	translation termination mutations naalysis using the protein truncation test on exon11a of the brca1 gene in female breast cancer patients of pahang, malaysia
publisher	Design for Scientific Renaissance
publishDate	2012
url	http://irep.iium.edu.my/24794/ http://irep.iium.edu.my/24794/ http://irep.iium.edu.my/24794/1/Publication.pdf
first_indexed	2023-09-18T20:37:06Z
last_indexed	2023-09-18T20:37:06Z
_version_	1777409118743560192

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

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