Cargando…
Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants
Germline inactivating mutations in BRCA1 and BRCA2 genes are responsible for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). Genetic testing of these genes is available, although approximately 15% of tests identify variants of uncertain significance (VUS). Classification of these variants int...
Autores principales: | Quiles, Francisco, Fernández-Rodríguez, Juana, Mosca, Roberto, Feliubadaló, Lídia, Tornero, Eva, Brunet, Joan, Blanco, Ignacio, Capellá, Gabriel, Pujana, Miquel Àngel, Aloy, Patrick, Monteiro, Alvaro, Lázaro, Conxi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629201/ https://www.ncbi.nlm.nih.gov/pubmed/23613828 http://dx.doi.org/10.1371/journal.pone.0061302 |
Ejemplares similares
-
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families
por: Fernández-Rodríguez, Juana, et al.
Publicado: (2012) -
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
por: Castellanos, Elisabeth, et al.
Publicado: (2017) -
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics
por: Moreno-Cabrera, José Marcos, et al.
Publicado: (2020) -
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
por: Rofes, Paula, et al.
Publicado: (2021) -
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines
por: Munté, Elisabet, et al.
Publicado: (2023)