BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer

Genetic testing for susceptibility genes through next-generation sequencing (NGS) has become a widely used technique. Using this, a number of genetic variants have been identified, several of which are variants of unknown significance (VUS). These VUS can either be pathogenic or benign. However, sin...

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Detalles Bibliográficos
Autores principales: Lourenço, Rita Adubeiro, Lança, Miguel, Monteiro Gil, Octávia, Cardoso, Joana, Lourenço, Teresa, Pereira-Leal, José B., Rodrigues, António Sebastião, Rueff, José, Nunes Silva, Susana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280555/
https://www.ncbi.nlm.nih.gov/pubmed/37232349
http://dx.doi.org/10.3892/mmr.2023.13023

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