title: Defects in homologous recombination repair behind the human diseases: FA and HBOC.
abstract: 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.
authors.affiliation: Laboratory of DNA Damage SignalingDepartment of Late Effects Studies, Radiation Biology Center, Kyoto University, Yoshidakonoecho, Sakyo-ku, Kyoto, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Katsuki
authors.affiliation: Laboratory of DNA Damage SignalingDepartment of Late Effects Studies, Radiation Biology Center, Kyoto University, Yoshidakonoecho, Sakyo-ku, Kyoto, Japan mtakata@house.rbc.kyoto-u.ac.jp.
authors.forename: Minoru
authors.initials: M
authors.lastname: Takata
mesh_terms: D000818:Animals; D004260:DNA Repair / Q000235:genetics; D004194:Disease / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000502:physiology*; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000235:genetics*; D006801:Humans; D059767:Recombinational DNA Repair / Q000235:genetics*
keywords: BRCA2; Fanconi anemia; hereditary breast and ovarian cancer; homologous recombination; interstrand crosslink repair