Defects in homologous recombination repair behind the human diseases: FA and HBOC. Issue 10 (October 2016)

• Record Type: Journal Article
• Authors: Katsuki, Yoko; Takata, Minoru
• Is Part Of: Endocrine-related cancer. Volume 23:Issue 10(2016)
• Page Start: T19
• Page End: T37
• Publication Date: 2016-10
• Subjects: Fanconi anemia -- BRCA2 -- hereditary breast and ovarian cancer -- interstrand crosslink repair -- homologous recombination; Endocrine glands -- Cancer -- Periodicals; Endocrinology -- Periodicals; Cancer -- Endocrine aspects -- Periodicals; 616.9944005
• DOI: 10.1530/ERC-16-0221
• Languages: English
• ISSNs: 1351-0088

Abstract

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.