The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer

BACKGROUND: Pathogenic variants that occur in the familial breast cancer genes (BRCA1/2) lead to truncated ineffective proteins in the majority of cases. These variants are mostly represented by small deletions/insertions, nonsense- and splice-site variants, although some larger pathogenic rearrange...

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Detalles Bibliográficos
Autores principales: van der Merwe, Nerina C., Oosthuizen, Jaco, Theron, Magdalena, Chong, George, Foulkes, William D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203887/
https://www.ncbi.nlm.nih.gov/pubmed/32375709
http://dx.doi.org/10.1186/s12885-020-06917-y

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