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=Volume 11 - 2021

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 population is important for cancer prevention in mutation careers. In Sub-Saharan Africa, 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 in African American population and was suggested to have a West African origin. Recent report from Senegal identified this variant in women with inherited breast cancer with the highest frequency never reported. The variant was linked to a common haplotype confirming its founder effect in West Africa. In this article we reviewed c.815_824dup mutation history and discuss how it spread out of Africa through transatlantic slave trade.