Screening of BRCA1/2 variants in Mauritanian breast cancer patients
Selma Mohamed Brahim1,2, Ekht Elbenina Zein2, Crystel Bonnet3
1Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne. UNA-FST. Unité URBPM Nouakchott-Mauritanie, Nouakchott-Mauritanie, France.
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.
