Cargando…
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes
Genetic testing for hereditary breast cancer is an integral part of individualized care in the new era of precision medicine. The accuracy of an assay is reliant on not only the technology and bioinformatics analysis utilized but also the experience and infrastructure required to correctly classify...
Autores principales: | Pesaran, T., Karam, R., Huether, R., Li, S., Farber-Katz, S., Chamberlin, A., Chong, H., LaDuca, H., Elliott, A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5086358/ https://www.ncbi.nlm.nih.gov/pubmed/27822389 http://dx.doi.org/10.1155/2016/2469523 |
Ejemplares similares
-
Somatic TP53 variants frequently confound germline testing results
por: Weitzel, Jeffrey N., et al.
Publicado: (2017) -
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data
por: Hernandez, Felicia, et al.
Publicado: (2022) -
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance
por: Richardson, Marcy E., et al.
Publicado: (2021) -
Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers
por: Yao K, Katharine A, et al.
Publicado: (2020) -
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance
por: Iversen, Edwin S., et al.
Publicado: (2022)