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Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study

Breast cancer patients historically benefitted from population-based genetic research performed in South Africa, which led to the development of founder-based BRCA1/2 diagnostic tests. With the advent of next-generation sequencing (NGS) technologies, the clinical utility of limited, targeted genetic...

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Detalles Bibliográficos
Autores principales: Oosthuizen, Jaco, Kotze, Maritha J., Van Der Merwe, Nicole, Myburgh, Ettienne J., Bester, Phillip, van der Merwe, Nerina C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908826/
https://www.ncbi.nlm.nih.gov/pubmed/33643918
http://dx.doi.org/10.3389/fonc.2020.619469