AUTHOR=Diop Jean Pascal Demba , Sène Andréa Régina Gnilane , Dia Yacouba , Ba Seydi Abdoul , Mbacke Serigne Saliou , Ly Cheikh Ameth Tidiane , Sarr Pierre Diaga , Diouf Doudou , Ka Sidy , Mbengue Babacar , Gueye Serigne Modou Kane , Diop Pape Saloum , Sylla Niang Maguette , Gueye Papa Madieye , Lopez Sall Philomene , Dem Ahmadou , Cisse Aynina , Dieye Alioune , 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/journals/oncology/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.