Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

BACKGROUND: Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from multiple ethnicities, but limited information is available from sub-Saharan African populations. We report a BRCA2 pathogenic variant in a Senegalese famil...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Diop, Jean Pascal Demba, Diallo, Rokhaya Ndiaye, Bourdon-Huguenin, Violaine, Dem, Ahmadou, Diouf, Doudou, Dieng, Mamadou Moustapha, Ba, Seydi Abdoul, Dia, Yacouba, Ka, Sidy, Mbengue, Babacar, Thiam, Alassane, Faye, Oumar, Diop, Papa Amadou, Sobol, Hagay, Dieye, Alioune
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6501405/
https://ncbi.nlm.nih.gov/pubmed/31060517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0814-y
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