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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
BACKGROUND: Damaging alterations in the BRCA1 gene have been extensively described as one of the main causes of hereditary breast and ovarian cancer (HBOC). BRCA1 alterations can lead to impaired homologous recombination repair (HRR) of double-stranded DNA breaks, a process which involves the RING,...
Autores principales: | Bassi, Nicola, Hovland, Henrikke Nilsen, Rasheed, Kashif, Jarhelle, Elisabeth, Pedersen, Nikara, Mchaina, Eunice Kabanyana, Bakkan, Sara Marie Engelsvold, Iversen, Nina, Høberg-Vetti, Hildegunn, Haukanes, Bjørn Ivar, Knappskog, Per Morten, Aukrust, Ingvild, Ognedal, Elisabet, Van Ghelue, Marijke |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10122298/ https://www.ncbi.nlm.nih.gov/pubmed/37085799 http://dx.doi.org/10.1186/s12885-023-10790-w |
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