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Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are...

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Autores principales: Elimam, Alsmawal A., Aabdein, Mohamed Elmogtba Mouaweia Mohamed, Eldeen, Mohamed El-Fatih Moly, Altayb, Hisham N., Taha, Mohamed Adel, Nimir, Mohammed N., Dafaalla, Mohamed D., Alfaki, Musaab M., Abdelrahim, Mohamed A., Abdalla, Abdelmohaymin A., Mohammed, Musab I., Ellaithi, Mona, Hamid, Muzamil Mahdi Abdel, Hassan, Mohamed Ahmed Salih
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559773/
https://www.ncbi.nlm.nih.gov/pubmed/28814288
http://dx.doi.org/10.1186/s12881-017-0448-x
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author Elimam, Alsmawal A.
Aabdein, Mohamed Elmogtba Mouaweia Mohamed
Eldeen, Mohamed El-Fatih Moly
Altayb, Hisham N.
Taha, Mohamed Adel
Nimir, Mohammed N.
Dafaalla, Mohamed D.
Alfaki, Musaab M.
Abdelrahim, Mohamed A.
Abdalla, Abdelmohaymin A.
Mohammed, Musab I.
Ellaithi, Mona
Hamid, Muzamil Mahdi Abdel
Hassan, Mohamed Ahmed Salih
author_facet Elimam, Alsmawal A.
Aabdein, Mohamed Elmogtba Mouaweia Mohamed
Eldeen, Mohamed El-Fatih Moly
Altayb, Hisham N.
Taha, Mohamed Adel
Nimir, Mohammed N.
Dafaalla, Mohamed D.
Alfaki, Musaab M.
Abdelrahim, Mohamed A.
Abdalla, Abdelmohaymin A.
Mohammed, Musab I.
Ellaithi, Mona
Hamid, Muzamil Mahdi Abdel
Hassan, Mohamed Ahmed Salih
author_sort Elimam, Alsmawal A.
collection PubMed
description BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC. In this study a specific region of BRCA2 exon 11 was targeted using PCR and DNA sequencing. RESULTS: Early onset cases 25/45 (55.6%) were premenopausal women with a mean age of 36.6 years. Multiparity was more frequent within the study amounting to 30 cases (66.6%), with a mean parity of 4.1. Ductal type tumor was the predominant type detected in 22 cases (48.8%) among the reported histotypes. A heterozygous monoallelic nonsense mutation at nucleotide 3385 was found in four patients out of 9, where TTA codon was converted into the stop codon TGA. CONCLUSION: This study detected a monoallelic nonsense mutation in four Sudanese female patients diagnosed with early onset BC from different families. Further work is needed to demonstrate its usefulness in screening of BC.
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spelling pubmed-55597732017-08-18 Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer Elimam, Alsmawal A. Aabdein, Mohamed Elmogtba Mouaweia Mohamed Eldeen, Mohamed El-Fatih Moly Altayb, Hisham N. Taha, Mohamed Adel Nimir, Mohammed N. Dafaalla, Mohamed D. Alfaki, Musaab M. Abdelrahim, Mohamed A. Abdalla, Abdelmohaymin A. Mohammed, Musab I. Ellaithi, Mona Hamid, Muzamil Mahdi Abdel Hassan, Mohamed Ahmed Salih BMC Med Genet Research Article BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC. In this study a specific region of BRCA2 exon 11 was targeted using PCR and DNA sequencing. RESULTS: Early onset cases 25/45 (55.6%) were premenopausal women with a mean age of 36.6 years. Multiparity was more frequent within the study amounting to 30 cases (66.6%), with a mean parity of 4.1. Ductal type tumor was the predominant type detected in 22 cases (48.8%) among the reported histotypes. A heterozygous monoallelic nonsense mutation at nucleotide 3385 was found in four patients out of 9, where TTA codon was converted into the stop codon TGA. CONCLUSION: This study detected a monoallelic nonsense mutation in four Sudanese female patients diagnosed with early onset BC from different families. Further work is needed to demonstrate its usefulness in screening of BC. BioMed Central 2017-08-16 /pmc/articles/PMC5559773/ /pubmed/28814288 http://dx.doi.org/10.1186/s12881-017-0448-x Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Elimam, Alsmawal A.
Aabdein, Mohamed Elmogtba Mouaweia Mohamed
Eldeen, Mohamed El-Fatih Moly
Altayb, Hisham N.
Taha, Mohamed Adel
Nimir, Mohammed N.
Dafaalla, Mohamed D.
Alfaki, Musaab M.
Abdelrahim, Mohamed A.
Abdalla, Abdelmohaymin A.
Mohammed, Musab I.
Ellaithi, Mona
Hamid, Muzamil Mahdi Abdel
Hassan, Mohamed Ahmed Salih
Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
title Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
title_full Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
title_fullStr Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
title_full_unstemmed Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
title_short Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
title_sort monoallelic characteristic-bearing heterozygous l1053x in brca2 gene among sudanese women with breast cancer
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559773/
https://www.ncbi.nlm.nih.gov/pubmed/28814288
http://dx.doi.org/10.1186/s12881-017-0448-x
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