Screening of BRCA1/2 variants in Mauritanian breast cancer patients
Abstract 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 fr...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-07-01
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| Series: | BMC Cancer |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12885-022-09903-8 |
| _version_ | 1818510020263804928 |
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| author | Selma Mohamed Brahim Ekht Elbenina Zein Crystel Bonnet Cheikh Tijani Hamed Malak Salame Mohamed Vall Zein Meriem Khyatti Ahmedou Tolba Ahmed Houmeida |
| author_facet | Selma Mohamed Brahim Ekht Elbenina Zein Crystel Bonnet Cheikh Tijani Hamed Malak Salame Mohamed Vall Zein Meriem Khyatti Ahmedou Tolba Ahmed Houmeida |
| author_sort | Selma Mohamed Brahim |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-10T22:53:30Z |
| format | Article |
| id | doaj.art-57440a26583e48e7b6094fe0137b3ce0 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-12-10T22:53:30Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-57440a26583e48e7b6094fe0137b3ce02022-12-22T01:30:21ZengBMCBMC Cancer1471-24072022-07-012211910.1186/s12885-022-09903-8Screening of BRCA1/2 variants in Mauritanian breast cancer patientsSelma Mohamed Brahim0Ekht Elbenina Zein1Crystel Bonnet2Cheikh Tijani Hamed3Malak Salame4Mohamed Vall Zein5Meriem Khyatti6Ahmedou Tolba7Ahmed Houmeida8Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne. UNA-FST. Unité URBPM Nouakchott-MauritanieCentre National d’Oncologie (CNO). Unité de Recherche et d’EnseignementInstitut de l’Audition, Institut Pasteur, InsermCentre d’HépatovirologieUnité de Recherche sur les Biomarqueurs dans la Population Mauritanienne. UNA-FST. Unité URBPM Nouakchott-MauritanieCentre National d’Oncologie (CNO). Unité de Recherche et d’EnseignementInstitut Pasteur du Maroc. Laboratoire Oncologie et Thérapie CellulaireCentre National d’Oncologie (CNO). Unité de Recherche et d’EnseignementUnité de Recherche sur les Biomarqueurs dans la Population Mauritanienne. UNA-FST. Unité URBPM Nouakchott-MauritanieAbstract 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.https://doi.org/10.1186/s12885-022-09903-8Breast cancer (BC)BRCA1/2VariantWomenMauritania |
| spellingShingle | Selma Mohamed Brahim Ekht Elbenina Zein Crystel Bonnet Cheikh Tijani Hamed Malak Salame Mohamed Vall Zein Meriem Khyatti Ahmedou Tolba Ahmed Houmeida Screening of BRCA1/2 variants in Mauritanian breast cancer patients BMC Cancer Breast cancer (BC) BRCA1/2 Variant Women Mauritania |
| title | Screening of BRCA1/2 variants in Mauritanian breast cancer patients |
| title_full | Screening of BRCA1/2 variants in Mauritanian breast cancer patients |
| title_fullStr | Screening of BRCA1/2 variants in Mauritanian breast cancer patients |
| title_full_unstemmed | Screening of BRCA1/2 variants in Mauritanian breast cancer patients |
| title_short | Screening of BRCA1/2 variants in Mauritanian breast cancer patients |
| title_sort | screening of brca1 2 variants in mauritanian breast cancer patients |
| topic | Breast cancer (BC) BRCA1/2 Variant Women Mauritania |
| url | https://doi.org/10.1186/s12885-022-09903-8 |
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