Article
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
BMC cancer - 21 Apr 2023
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
Abstract excerpt
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, BRCT and coiled-coil domains of the BRCA1 protein. In addition, the BRCA1 protein is involved in transcriptional...
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