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Detection of New Point Mutations of BRCA1 and BRCA2 in Breast Cancer Patients

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Abstract

This study included 20 selected female patients with breast cancer, 30 of their female relatives (sisters and daughters), and 10 healthy females as a control group. Genomic DNA was extracted from peripheral blood lymphocytes of all the subjects, and the polymerase chain reaction was carried out using specific primers for BRCA1 (exons 2 and 8) and BRCA2 (exons 9, 11, and 21). The mutations were detected using a single-strand conformation polymorphism assay and heteroduplex analysis. Finally, the sample variants and their controls were sequenced. Mutations were detected in 44% of the study population, with 18% found in the BRCA1 gene and 26% attributed to BRCA2. Five sequence variants were identified, including two frameshift mutations, one nonsense mutation, and two missense mutations. Therefore, we conclude that germline mutations in two major genes, BRCA1 and BRCA2, may have an important influence on the predisposition and development of familial breast cancer.

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Author notes

  1. Mahmoud Balbaa

    Present address: Faculty of Science, Beirut Arab University, Beirut, Lebanon

Authors and Affiliations

  1. Department of Molecular and Cellular Biology, Faculty of Science, University of Jijel, Jijel, Algeria

    Moufida Bensam

  2. Genetic Engineering Unit, Scientific Research City, Borg Al-Arab, Alexandria, Egypt

    Elsayed Hafez

  3. Department of Biochemistry, Faculty of Science, Alexandria University, Alexandria, Egypt

    Doaa Awad, Muhammad El-Saadani & Mahmoud Balbaa

Authors
  1. Moufida Bensam
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  2. Elsayed Hafez
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  3. Doaa Awad
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  4. Muhammad El-Saadani
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  5. Mahmoud Balbaa
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Corresponding author

Correspondence to Mahmoud Balbaa.

Additional information

GenBank accession nos.

These sequence variants and their controls have been submitted to GenBank: HQ221559, HQ221560, HQ221561, HQ221562, 1260166, 1259889, HQ221557, HQ221558, HQ221555, and HQ221556.

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Bensam, M., Hafez, E., Awad, D. et al. Detection of New Point Mutations of BRCA1 and BRCA2 in Breast Cancer Patients. Biochem Genet 52, 15–28 (2014). https://doi.org/10.1007/s10528-013-9623-8

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  • DOI: https://doi.org/10.1007/s10528-013-9623-8

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