Defects in homologous recombination repair behind the human diseases: FA and HBOC

    1. Minoru Takata
    1. Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Kyoto University, Yoshidakonoecho, Sakyo-ku, Kyoto, Japan
    1. Correspondence should be addressed to M Takata; Email: mtakata{at}


    Hereditary breast and ovarian cancer (HBOC) syndrome and a rare childhood disorder Fanconi anemia (FA) are caused by homologous recombination (HR) defects, and some of the causative genes overlap. Recent studies in this field have led to the exciting development of PARP inhibitors as novel cancer therapeutics and have clarified important mechanisms underlying genome instability and tumor suppression in HR-defective disorders. In this review, we provide an overview of the basic molecular mechanisms governing HR and DNA crosslink repair, highlighting BRCA2, and the intriguing relationship between HBOC and FA.

    • Received 18 August 2016
    • Accepted 22 August 2016
    • Made available online as an Accepted Preprint 22 August 2016
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