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    Chromosome instability syndromes

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    Authors
    Taylor, AMR
    Rothblum-Oviatt, C
    Ellis, NA
    Hickson, ID
    Meyer, Stefan
    Crawford, TO
    Smogorzewska, A
    Pietrucha, B
    Weemaes, C
    Stewart, GS
    Affiliation
    Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
    Issue Date
    2019
    
    Metadata
    Show full item record
    Abstract
    Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders. Each disorder has its own pattern of chromosomal damage, with cells from these patients being hypersensitive to particular genotoxic drugs, indicating that the underlying defect in each case is likely to be different. In addition, each syndrome shows a predisposition to cancer. Study of the molecular and genetic basis of these disorders has revealed mechanisms of recognition and repair of DNA double-strand breaks, DNA interstrand crosslinks and DNA damage during DNA replication. Specialist clinics for each disorder have provided the concentration of expertise needed to tackle their characteristic clinical problems and improve outcomes. Although some treatments of the consequences of a disorder may be possible, for example, haematopoietic stem cell transplantation in FA and NBS, future early intervention to prevent complications of disease will depend on a greater understanding of the roles of the affected DNA repair pathways in development. An important realization has been the predisposition to cancer in carriers of some of these gene mutations.
    Citation
    Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, et al. Chromosome instability syndromes. Nat Rev Dis Primers. 2019 Sep 19;5(1):64.
    Journal
    Nature Reviews Disease Primers
    URI
    http://hdl.handle.net/10541/622197
    DOI
    10.1038/s41572-019-0113-0
    PubMed ID
    31537806
    Additional Links
    https://dx.doi.org/10.1038/s41572-019-0113-0
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41572-019-0113-0
    Scopus Count
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