Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous rec...
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
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Author / Creator
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 and Van Ghelue, Marijke
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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, BRCT and coiled-coil domains of the BRCA1 protein. In addition...
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Full title
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
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TN_cdi_doaj_primary_oai_doaj_org_article_3cfc411134d040d8a50b6bbb38b22097
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3cfc411134d040d8a50b6bbb38b22097
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ISSN
1471-2407
E-ISSN
1471-2407
DOI
10.1186/s12885-023-10790-w