@ARTICLE{10.3389/fonc.2021.810060, AUTHOR={Diop, Jean Pascal Demba and Sène, Andréa Régina Gnilane and Dia, Yacouba and Ba, Seydi Abdoul and Mbacke, Serigne Saliou and Ly, Cheikh Ameth Tidiane and Sarr, Pierre Diaga and Diouf, Doudou and Ka, Sidy and Mbengue, Babacar and Gueye, Serigne Modou Kane and Diop, Pape Saloum and Sylla Niang, Maguette and Gueye, Papa Madieye and Lopez Sall, Philomene and Dem, Ahmadou and Cisse, Aynina and Dieye, Alioune and Ndiaye, Rokhaya}, TITLE={New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin}, JOURNAL={Frontiers in Oncology}, VOLUME={11}, YEAR={2022}, URL={https://www.frontiersin.org/articles/10.3389/fonc.2021.810060}, DOI={10.3389/fonc.2021.810060}, ISSN={2234-943X}, ABSTRACT={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.} }