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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays

Abstract 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 th...

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Principais autores: Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal, Marijke Van Ghelue
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2023-04-01
Serier:BMC Cancer
Fag:
Hereditary breast and ovarian cancer
BRCA1
Functional assay
Homologous recombination repair
Transcriptional activation
Online adgang:https://doi.org/10.1186/s12885-023-10790-w
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