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New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin

2022; Frontiers Media; Volume: 11; Linguagem: Inglês

10.3389/fonc.2021.810060

2234-943X

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 Mbengué, Serigne M. Gueye, Pape Saloum Diop, Maguette Sylla Niang, Papa Gueye, Philomène Lopez Sall, Ahmadou Dem, A Cissé, Alioune Dièye, Rokhaya Ndiaye,

DNA Repair Mechanisms

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.