ArticleBMC cancer2022
Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
Article in BMC cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- Research progress and applications of epigenetic biomarkers in cancer.Frontiers in pharmacology · 2024Review
- Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data.Seminars in oncology · 2023Review
- Genetic contribution of breast cancer genes in women of black African origin.Frontiers in genetics · 2023Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND STUDY
aimCarrying 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.
methodsUsing NGS based screening; we searched for BRCA1/2 variants in DNA samples from 137 patients diagnosed for hereditary BC.
resultsWe 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.
conclusionsIn 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.
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