Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay

BRCA1 (Breast Cancer 1, early onset) is linked to breast and ovarian cancer predisposition. Still, the risks conferred by a significant portion of BRCA1 variants identified in the population remains unknown. Most of these variants of uncertain significance are missense alterations. However, the func...

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Detalles Bibliográficos
Autores principales: Nepomuceno, Thales C., dos Santos, Ana P. P., Fernandes, Vanessa C., Elias, Anna B. R., Gomes, Thiago T., Suarez-Kurtz, Guilherme, Iversen, Edwin S., Couch, Fergus J., Monteiro, Alvaro N. A., Carvalho, Marcelo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519549/
https://www.ncbi.nlm.nih.gov/pubmed/36171434
http://dx.doi.org/10.1038/s41598-022-20500-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519549/
https://www.ncbi.nlm.nih.gov/pubmed/36171434
http://dx.doi.org/10.1038/s41598-022-20500-4

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