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. 2022 Jul 20;22(1):802.
doi: 10.1186/s12885-022-09903-8.

Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Selma Mohamed Brahim  1   2 , Ekht Elbenina Zein  2 , Crystel Bonnet  3 , Cheikh Tijani Hamed  4 , Malak Salame  1 , Mohamed Vall Zein  2 , Meriem Khyatti  5 , Ahmedou Tolba  2 , Ahmed Houmeida  6
Affiliations

Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Selma Mohamed Brahim et al. BMC Cancer. .

Abstract

Background and study aim: Carrying a pathogenic BRCA1/2 variant increases greatly young women's risk of developing breast cancer (BC). This study aimed to provide the first genetic data on BC in Mauritania.

Methods: Using NGS based screening; we searched for BRCA1/2 variants in DNA samples from 137 patients diagnosed for hereditary BC.

Results: We identified 16 pathogenic or likely pathogenic (PV) variants carried by 38 patients. Two predominant BRCA1 PV variants were found: c.815_824dup and c.4986 + 6 T > C in 13 and 7 patients, respectively. Interestingly, three novels BRCA1/2 predicted pathogenic variants have also been detected. Notably, no specific distribution of BRCA1/2 variants was observed regarding triple negative breast cancer (TNBC) or patient gender status.

Conclusions: In this first genetic profiling of BC in Mauritania, we identified a substantial number of BRCA1/2 pathogenic variants. This finding could be important in the future diagnosis and prevention policy of hereditary BC in Mauritania.

Keywords: BRCA1/2; Breast cancer (BC); Mauritania; Variant; Women.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Examples of pedigrees with patients carrying variants in BRCA1 and BRCA2 genes in the Mauritanian population
Fig. 2
Fig. 2
Geographic distribution of reported BRCA1/2 variants in Mauritania
See this image and copyright information in PMC

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Supplementary concepts