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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2017

Open Access 01-12-2017 | Research article

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

Authors: Alsmawal A. Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N. Altayb, Mohamed Adel Taha, Mohammed N. Nimir, Mohamed D. Dafaalla, Musaab M. Alfaki, Mohamed A. Abdelrahim, Abdelmohaymin A. Abdalla, Musab I. Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid, Mohamed Ahmed Salih Hassan

Published in: BMC Medical Genetics | Issue 1/2017

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Abstract

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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Metadata
Title
Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
Authors
Alsmawal A. Elimam
Mohamed Elmogtba Mouaweia Mohamed Aabdein
Mohamed El-Fatih Moly Eldeen
Hisham N. Altayb
Mohamed Adel Taha
Mohammed N. Nimir
Mohamed D. Dafaalla
Musaab M. Alfaki
Mohamed A. Abdelrahim
Abdelmohaymin A. Abdalla
Musab I. Mohammed
Mona Ellaithi
Muzamil Mahdi Abdel Hamid
Mohamed Ahmed Salih Hassan
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2017
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-017-0448-x

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