New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin
Founder mutations have been reported in BRCA1 and BCRA2 in different ethnic groups with inherited breast cancer. Testing of targeted mutations in specific populations is important for cancer prevention in mutation carriers. In Sub-Saharan Africa, only a few studies have reported specific founder mut...
| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-01-01
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| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2021.810060/full |
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| author | Jean Pascal Demba Diop Andréa Régina Gnilane Sène Yacouba Dia Seydi Abdoul Ba Serigne Saliou Mbacke Cheikh Ameth Tidiane Ly Pierre Diaga Sarr Doudou Diouf Sidy Ka Babacar Mbengue Serigne Modou Kane Gueye Pape Saloum Diop Maguette Sylla Niang Papa Madieye Gueye Philomene Lopez Sall Ahmadou Dem Aynina Cisse Alioune Dieye Rokhaya Ndiaye |
| author_facet | Jean Pascal Demba Diop Andréa Régina Gnilane Sène Yacouba Dia Seydi Abdoul Ba Serigne Saliou Mbacke Cheikh Ameth Tidiane Ly Pierre Diaga Sarr Doudou Diouf Sidy Ka Babacar Mbengue Serigne Modou Kane Gueye Pape Saloum Diop Maguette Sylla Niang Papa Madieye Gueye Philomene Lopez Sall Ahmadou Dem Aynina Cisse Alioune Dieye Rokhaya Ndiaye |
| author_sort | Jean Pascal Demba Diop |
| collection | DOAJ |
| description | Founder mutations have been reported in BRCA1 and BCRA2 in different ethnic groups with inherited breast cancer. Testing of targeted mutations in specific populations is important for cancer prevention in mutation carriers. In Sub-Saharan Africa, only a few studies have reported specific founder mutations in inherited breast cancer. The pathogenic variant c.815_824dup of BRCA1 has been reported as the most frequent among African American populations with inherited breast cancer and was supposed to have a West African origin. Recent report from Senegal identified this variant in women with inherited breast cancer at the highest frequency ever reported. The variant was linked to a common haplotype confirming its founder effect in West Africa. In this article, we review the mutation history of c.815_824dup and discuss how it spread out of Africa through the transatlantic slave trade. |
| first_indexed | 2024-12-18T05:25:58Z |
| format | Article |
| id | doaj.art-3bbd073a2a1f425abbe10b8a4c2e00ad |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-12-18T05:25:58Z |
| publishDate | 2022-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-3bbd073a2a1f425abbe10b8a4c2e00ad2022-12-21T21:19:33ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-01-011110.3389/fonc.2021.810060810060New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African OriginJean Pascal Demba Diop0Andréa Régina Gnilane Sène1Yacouba Dia2Seydi Abdoul Ba3Serigne Saliou Mbacke4Cheikh Ameth Tidiane Ly5Pierre Diaga Sarr6Doudou Diouf7Sidy Ka8Babacar Mbengue9Serigne Modou Kane Gueye10Pape Saloum Diop11Maguette Sylla Niang12Papa Madieye Gueye13Philomene Lopez Sall14Ahmadou Dem15Aynina Cisse16Alioune Dieye17Rokhaya Ndiaye18Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalJoliot Curie Institute, Aristide Le Dantec Hospital, Dakar, SenegalJoliot Curie Institute, Aristide Le Dantec Hospital, Dakar, SenegalImmunology Unit, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalGynecology Unit, Aristide Le Dantec Hospital, Dakar, SenegalUnit of General Surgery, General Hospital Idrissa Pouye, Dakar, SenegalImmunology Unit, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalLaboratory of Pharmaceutical Biochemistry, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalLaboratory of Pharmaceutical Biochemistry, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalJoliot Curie Institute, Aristide Le Dantec Hospital, Dakar, SenegalLaboratory of Pharmaceutical Biochemistry, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalImmunology Unit, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalDivision of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar, SenegalFounder mutations have been reported in BRCA1 and BCRA2 in different ethnic groups with inherited breast cancer. Testing of targeted mutations in specific populations is important for cancer prevention in mutation carriers. In Sub-Saharan Africa, only a few studies have reported specific founder mutations in inherited breast cancer. The pathogenic variant c.815_824dup of BRCA1 has been reported as the most frequent among African American populations with inherited breast cancer and was supposed to have a West African origin. Recent report from Senegal identified this variant in women with inherited breast cancer at the highest frequency ever reported. The variant was linked to a common haplotype confirming its founder effect in West Africa. In this article, we review the mutation history of c.815_824dup and discuss how it spread out of Africa through the transatlantic slave trade.https://www.frontiersin.org/articles/10.3389/fonc.2021.810060/fullinherited breast cancerBRCA1 genepathogenic variantfounder mutationAfrica |
| spellingShingle | Jean Pascal Demba Diop Andréa Régina Gnilane Sène Yacouba Dia Seydi Abdoul Ba Serigne Saliou Mbacke Cheikh Ameth Tidiane Ly Pierre Diaga Sarr Doudou Diouf Sidy Ka Babacar Mbengue Serigne Modou Kane Gueye Pape Saloum Diop Maguette Sylla Niang Papa Madieye Gueye Philomene Lopez Sall Ahmadou Dem Aynina Cisse Alioune Dieye Rokhaya Ndiaye New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin Frontiers in Oncology inherited breast cancer BRCA1 gene pathogenic variant founder mutation Africa |
| title | New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin |
| title_full | New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin |
| title_fullStr | New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin |
| title_full_unstemmed | New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin |
| title_short | New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin |
| title_sort | new insights into c 815 824dup pathogenic variant of brca1 in inherited breast cancer a founder mutation of west african origin |
| topic | inherited breast cancer BRCA1 gene pathogenic variant founder mutation Africa |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2021.810060/full |
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