Screening of BRCA1/2 variants in Mauritanian breast cancer patients

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

1 UNA - Université de Nouakchott Al-Aasriya
2 IDA - Institut de l'Audition [Paris]
3 Centre National d'Hépato-Virologie [Mauritanie]
4 Institut Pasteur du Maroc

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.

Mots clés: BRCA1/2; Breast cancer (BC); Mauritania; Variant; Women

Domaines: Sciences du Vivant [q-bio]

Selma Mohamed Brahim, Ekht Elbenina Zein, Crystel Bonnet, Cheikh Tijani Hamed, Malak Salame, et al.. Screening of BRCA1/2 variants in Mauritanian breast cancer patients. BMC Cancer, 2022, 22 (1), pp.802. ⟨10.1186/s12885-022-09903-8⟩. ⟨pasteur-04072696⟩