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Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region

Abstract

Purpose

Breast cancer (BC) is the most common form of female cancer around the world. BC is mostly sporadic, and rarely hereditary. These hereditary forms are mostly BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome. BRCA1 and BRCA2 genes are large and had some recurrent mutations specific to some populations. Through this work we analyze the most recurrent mutations in Moroccan population and compared them to a large review of other BRCA1/2 spectrum mutations in the MENA region.

Methods

We report in this work a series of 163 unrelated patients (the largest series of Moroccan patients) with familial breast and/or ovarian cancer, selected among patients referred to our oncogenetic outpatient clinic, from 2006 to 2021. To identify genetic variants in these two genes, different genetic analysis strategies have been carried out, using Sanger Sequencing DNA or Target Panel Sequencing.

Results

Pathogenic variants were identified in 27.6% of patients. The most frequent mutation identified in our patients was the c.1310_1313delAAGA, BRCA2 (33%), and three other mutations seem more frequent in the Moroccan population (33%) of all reported patients: c.798_799delTT, BRCA1; and c.3279delC, BRCA1; and c.7234_7235insG in BRCA2 gene.

Conclusion

Through this work, we emphasize the importance of screening for BRCA1 and BRCA2 recurrent mutations in Moroccan patients. Other MENA (MENA: English-language acronym referring to the Middle East and North Africa region) countries had also some recurrent BRCA mutations, which will allow a fast and unexpensive first line genetic analysis and a precise molecular diagnosis. This will allow an adapted follow-up of the patients and a pre-symptomatic diagnosis of their relatives.

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Data availability

Enquiries about data availability should be directed to the authors.

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Acknowldgements

The authors thank the patients and their families.

Funding

The authors have no support or funding to report.

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Authors and Affiliations

Authors

Contributions

AS, SCE, and FZL designed and supervised the study. SCE and LA compiled results, wrote the manuscript, and prepared all the figures. FZL, JL, IR, ICJ, YD, MS, and MO performed sequencing data analysis. SCE, IR, ICJ, YD, MS, MO, LA, and AS recruited patients and gathered detailed clinical information for the study. All the authors read and agreed on the final draft of the manuscript.

Corresponding author

Correspondence to Siham Chafai Elalaoui.

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Elalaoui, S.C., Laarabi, F.Z., Afif, L. et al. Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region. Breast Cancer Res Treat 194, 187–198 (2022). https://doi.org/10.1007/s10549-022-06622-3

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Keywords

  • BRCA1
  • BRCA2
  • Morocco
  • Mutation
  • Spetcrum
  • Recurrent
  • MENA