Cargando…
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays
Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2. A majority of these variants are considered to be variants of uncertain significance (VUS) b...
Autores principales: | Biswas, Kajal, Lipton, Gary B., Stauffer, Stacey, Sullivan, Teresa, Cleveland, Linda, Southon, Eileen, Reid, Susan, Magidson, Valentin, Iversen, Edwin S., Sharan, Shyam K. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ https://www.ncbi.nlm.nih.gov/pubmed/33293522 http://dx.doi.org/10.1038/s41525-020-00158-5 |
Ejemplares similares
-
Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay
por: Sirisena, Nirmala, et al.
Publicado: (2020) -
Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs
por: Biswas, Kajal, et al.
Publicado: (2023) -
RAD52 S346X variant reduces breast cancer risk in BRCA2 mutation carriers
por: Biswas, Kajal, et al.
Publicado: (2020) -
Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies
por: Ding, Xia, et al.
Publicado: (2016) -
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants
por: Sahu, Sounak, et al.
Publicado: (2023)