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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247502/ https://www.ncbi.nlm.nih.gov/pubmed/30458859 http://dx.doi.org/10.1186/s40246-018-0183-1 |