Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

BACKGROUND: Deleterious variants in the tumour suppressor BRCA1 are known to cause hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose a challenge in clinical care, as their effect on protein functionality often remains unknown. Many of the pathogenic missense varia...

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Detalles Bibliográficos
Publicado en:Hum Genomics
Main Authors: Langerud, Jonas, Jarhelle, Elisabeth, Van Ghelue, Marijke, Ariansen, Sarah Louise, Iversen, Nina
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2018
Assuntos:
Primary Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6247502/
https://ncbi.nlm.nih.gov/pubmed/30458859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-018-0183-1
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