Screening of BRCA1/2 variants in Mauritanian breast cancer patients - Institut Pasteur Access content directly
Journal Articles BMC Cancer Year : 2022

Screening of BRCA1/2 variants in Mauritanian breast cancer patients


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.
Fichier principal
Vignette du fichier
s12885-022-09903-8.pdf (1.34 Mo) Télécharger le fichier

Dates and versions

pasteur-04072696 , version 1 (18-04-2023)




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⟩
43 View
50 Download



Gmail Mastodon Facebook X LinkedIn More