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    BRCA1 and Its Vulnerable C-Terminal BRCT Domain: Structure, Function, Genetic Mutations and Links to Diagnosis and Treatment of Breast and Ovarian Cancer

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    Date
    2024-03-04
    Author
    Ismail, Tala
    Alzneika, Safa
    Riguene, Emna
    Al-maraghi, Salwa
    Alabdulrazzak, Aya
    Al-Khal, Noof
    Fetais, Sara
    Thanassoulas, Angelos
    AlFarsi, Halema
    Nomikos, Michail
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    Abstract
    The BRCA1 is a tumor suppressor gene that encodes for the BRCA1 protein, which plays a vital role in DNA repair, cell cycle regulation, and the maintenance of genomic stability. The BRCA1 protein interacts with a variety of other proteins that play essential roles in gene regulation and embryonic development. It is a large protein composed of multiple domains. The C-terminal region of the BRCA1 protein consists of two BRCT domains connected by a short linker. The BRCT domains are crucial in protein–protein interactions as well as in DNA damage response and cell cycle regulation through their phosphoprotein binding modules that recognize the phosphorylated protein sequence motif of other kinases. Mutations within the BRCT domain can disrupt the normal function of BRCA1 and lead to an increased risk of developing breast and ovarian cancer. Herein, we explore the structural characteristics of BRCA1, focusing on the BRCT domain, its interactions with key cellular components, and its involvement in various cellular processes. In addition, the impact of BRCT domain mutations on breast and ovarian cancer susceptibility, prognosis, and treatment options is discussed. By providing a comprehensive understanding of the BRCT domain of BRCA1, this review aims to shed light on the role of this important domain in the pathogenesis and potential therapeutic approaches for breast and ovarian cancer.
    URI
    https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85188966519&origin=inward
    DOI/handle
    http://dx.doi.org/10.3390/ph17030333
    http://hdl.handle.net/10576/55244
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    • Medicine Research [‎1759‎ items ]

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