BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report

  • Chiraz Mehemmai
  • Farid CherbalEmail author
  • Yosr Hamdi
  • Abdelmoumene Guedioura
  • Wassila Benbrahim
  • Rabah Bakour
  • Sonia Abdelhak
Original Article


Breast cancer is currently the leading cause of cancer morbidity and mortality among Algerian women. In this study, we aimed to investigate the mutation spectrum of BRCA1 and BRCA2 genes in hereditary breast/ovarian cancer (HBOC) families from the Aures region (eastern Algeria). High risk breast/ovarian cancer families were selected from overall 1162 consecutive patients collected from cancer registry of anticancer center of Batna. Breast cancers were diagnosed between 2011 and 2015. Recurrent mutations on BRCA1 and BRCA2 previously found in Algerian patients were screened using PCR-direct sequencing in 113 HBOC families. In addition, for the first time in Algeria, HBOC patients were analyzed by NGS using a cancer panel of 30 hereditary cancer genes or BRCA1/2 genetic test. Six distinct deleterious mutations in BRCA1 and BRCA2 and a new VUS in PALB2 were detected in ten patients. Two distinct BRCA2 pathogenic variants c.1813dupA and c.8485C > T detected in two young female triple negative breast cancer (TNBC) patients, respectively, with a family history of male breast cancer, are reported here for the first time in Algerian population. Interestingly, we also detected a BRCA exon 15 deletion in two unrelated young female TNBC patients with strong family history of breast/ovarian cancer. Our study showed differences in the distribution of the mutation spectrum of BRCA genes between the Aures region and the north central region of Algeria. Our results will contribute in the implementation of genetic counseling and testing for patients and families at risk of hereditary breast and ovarian cancer.


Algerian women Aures region HBOC BRCA1 BRCA2 Genetic testing NGS Cancer panel 



Array Comparative Genomic Hybridization


Estrogen Receptor,


Chromogenic In Situ Hybridization,


Human Epidermal growth factor Receptor 2,


Hereditary Breast and Ovarian Cancer


Antigen Ki67


Invasive Ductal Carcinoma,




Invasive Lobular Carcinoma,


Large Genomic Rearrangement


Mixed Carcinoma (invasive ductal and invasive lobular)


Multiplex Ligation Probe Amplification


Next Generation Sequencing


Progesterone Receptor


Triple Negative Breast Cancer


Variant of Uncertain Significance



We deeply thank the patients and their families for their participation. This study was supported by the Algerian National Research Program FNRSDT (D01N01UN160420130007). Farid Cherbal would like to deeply and warmly thank Dr. Alicia Zhou and Color Genomics (Burlingame, California, United States, for performing the NGS analysis in our Algerian HBOC patients using Hereditary Cancer Test and Color BRCA1/2 genetic test. Farid Cherbal would like to thank Dr. Philippe Maillet (Ornex, France), Prof. Kada Boualga (Anti Cancer Center, Blida, Algeria), Daoud Cherbal (Paris, France) and Romaissa Cherbal (Paris, France) for their permanent support to the research program on hereditary cancers in Algerian population.

Compliance with Ethical Standards

Conflicts of Interest

The authors declare non conflict of interest.

Ethical Approval

All patients tested for BRCA1 and BRCA2 germline mutations and screened by PCR-direct sequencing and NGS analysis, respectively, signed written informed consent. The study was approved by the institutional review boards and ethical approval was obtained from appropriate institutions (USTHB, CAC Batna, FNRSDT and CNEPRU D01N01UN160420130007, 113 participants, start date: 4/16/2015, end date: 9/28/2016).

Informed Consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Arányi Lajos Foundation 2019

Authors and Affiliations

  1. 1.Unit of Genetics, Laboratory of Molecular and Cellular Biology, Faculty of Biological SciencesUSTHBAlgiersAlgeria
  2. 2.Faculty of Sciences of Tunis, University Campus 2092 - El ManarTunis, University of Tunis El ManarTunisTunisia
  3. 3.Laboratory of Biomedical Genomics and Oncogenetics (LRTI, IPT 05), Institut Pasteur de TunisUniversity of Tunis El ManarTunisTunisia
  4. 4.LOBEM, Faculty of Biological SciencesUSTHBAlgiersAlgeria
  5. 5.Anti-cancer center of BatnaBatnaAlgeria

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