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

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

Abstract

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.

Publisher

Frontiers Media SA

Subject

Cancer Research,Oncology

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. A Public Health Emergency;Obstetrics and Gynecology Clinics of North America;2024-03

2. Gynecologic Care of Black Breast Cancer Survivors;Current Breast Cancer Reports;2024-02-19

3. Genetic contribution of breast cancer genes in women of black African origin;Frontiers in Genetics;2023-12-13

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