%A Diop,Jean Pascal Demba %A Sène,Andréa Régina Gnilane %A Dia,Yacouba %A Ba,Seydi Abdoul %A Mbacke,Serigne Saliou %A Ly,Cheikh Ameth Tidiane %A Sarr,Pierre Diaga %A Diouf,Doudou %A Ka,Sidy %A Mbengue,Babacar %A Gueye,Serigne Modou Kane %A Diop,Pape Saloum %A Sylla Niang,Maguette %A Gueye,Papa Madieye %A Lopez Sall,Philomene %A Dem,Ahmadou %A Cisse,Aynina %A Dieye,Alioune %A Ndiaye,Rokhaya %D 2022 %J Frontiers in Oncology %C %F %G English %K Inherited breast cancer,BRCA1 gene,Pathogenic variant,founder mutation,Africa %Q %R 10.3389/fonc.2021.810060 %W %L %M %P %7 %8 2022-January-13 %9 Mini Review %+ Rokhaya Ndiaye,Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD),Senegal,rokhaya9.ndiaye@ucad.edu.sn %# %! BRCA1 c.815_824dup variant in African women with inherited breast cancer %* %< %T New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin %U https://www.frontiersin.org/articles/10.3389/fonc.2021.810060 %V 11 %0 JOURNAL ARTICLE %@ 2234-943X %X 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.