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

Autor: 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
Rok vydání: 2022
Předmět:
Zdroj: Frontiers in Oncology, Vol 11 (2022)
ISSN: 2234-943X
Popis: Founder mutations have been reported inBRCA1andBCRA2in 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 ofBRCA1has 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.
Databáze: OpenAIRE