Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal
In: npj Genomic Medicine ; volume 5, issue 1 ; ISSN 2056-7944, 2020
Online
academicJournal
Zugriff:
BRCA1 and BRCA2 are the most incriminated genes in inherited breast/ovarian cancers. Several pathogenic variants of these genes conferring genetic predisposition have been described in different populations but rarely in sub-Saharan Africa. The objectives of this study were to identify pathogenic variants of the BRCA genes involved in hereditary breast cancer in Senegal and to search for a founder effect. We recruited after free informed consent, 27 unrelated index cases diagnosed with breast cancer and each having a family history. Mutation screening of the genes identified a duplication of ten nucleotides c.815_824dupAGCCATGTGG, (p.Thr276Alafs) (NM_007294.3) located in exon 11 of BRCA1 gene, in 15 index cases (allelic frequency 27.7%). The pathogenic variant has been previously reported in African Americans as a founder mutation of West African origin. Haplotypes analysis of seven microsatellites surrounding the BRCA1 gene highlights a shared haplotype encompassing ~400 kb between D17S855 and D17S1325. This haplotype was not detected in none of 15 healthy controls. Estimation of the age of the pathogenic variant suggested that it occurred ~1400 years ago. Our study identified a founder pathogenic variant of BRCA1 predisposing to breast cancer and enabled the establishment of an affordable genetic test as a mean of prevention for Senegalese women at risk.
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Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal
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Autor/in / Beteiligte Person: | Ndiaye, Rokhaya ; Diop, Jean Pascal Demba ; Bourdon-Huguenin, Violaine ; Dem, Ahmadou ; Diouf, Doudou ; Dieng, Mamadou Moustapha ; Diop, Pape Saloum ; Kane Gueye, Serigne Modou ; Ba, Seydi Abdoul ; Dia, Yacouba ; Ka, Sidy ; Mbengue, Babacar ; Thiam, Alassane ; Sylla Niang, Maguette ; Gueye, Papa Madieye ; Faye, Oumar ; Lopez Sall, Philomene ; Cisse, Aynina ; Diop, Papa Amadou ; Sobol, Hagay ; Dieye, Alioune ; Ministère de l'Enseignement Supérieur et de la Recherche Scientifique |
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Zeitschrift: | npj Genomic Medicine ; volume 5, issue 1 ; ISSN 2056-7944, 2020 |
Veröffentlichung: | Springer Science and Business Media LLC, 2020 |
Medientyp: | academicJournal |
DOI: | 10.1038/s41525-020-0114-7 |
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