Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Autor:	Brahim, Selma Mohamed, Zein, Ekht Elbenina, Bonnet, Crystel, Hamed, Cheikh Tijani, Salame, Malak, Zein, Mohamed Vall, Khyatti, Meriem, Tolba, Ahmedou, Houmeida, Ahmed
Přispěvatelé:	Université de Nouakchott Al-Aasriya (UNA), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National d'Hépato-Virologie [Mauritanie], Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), The authors declare that no funds, grants were received during the preparation of this manuscript.
Rok vydání:	2022
Předmět:	Cancer Research Breast cancer (BC) [SDV]Life Sciences [q-bio] Breast Neoplasms Triple Negative Breast Neoplasms MESH: BRCA2 Protein BRCA1/2 MESH: Germ-Line Mutation Genetics MESH: Early Detection of Cancer Humans Women Genetic Predisposition to Disease Variant Early Detection of Cancer Germ-Line Mutation MESH: BRCA1 Protein BRCA2 Protein MESH: Humans BRCA1 Protein MESH: Genetic Predisposition to Disease Mauritania MESH: Triple Negative Breast Neoplasms Oncology Female MESH: Female MESH: Breast Neoplasms MESH: Mauritania
Zdroj:	BMC Cancer BMC Cancer, 2022, 22 (1), pp.802. ⟨10.1186/s12885-022-09903-8⟩
ISSN:	1471-2407
DOI:	10.1186/s12885-022-09903-8⟩
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb0742c36793b4f4918e3ff4fcbdd8a https://pubmed.ncbi.nlm.nih.gov/35858847 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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