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dc.contributor.authorTaylor, AMR
dc.contributor.authorRothblum-Oviatt, C
dc.contributor.authorEllis, NA
dc.contributor.authorHickson, ID
dc.contributor.authorMeyer, Stefan
dc.contributor.authorCrawford, TO
dc.contributor.authorSmogorzewska, A
dc.contributor.authorPietrucha, B
dc.contributor.authorWeemaes, C
dc.contributor.authorStewart, GS
dc.date.accessioned2019-10-07T15:16:41Z
dc.date.available2019-10-07T15:16:41Z
dc.date.issued2019en
dc.identifier.citationTaylor 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.en
dc.identifier.pmid31537806en
dc.identifier.doi10.1038/s41572-019-0113-0en
dc.identifier.urihttp://hdl.handle.net/10541/622197
dc.description.abstractFanconi 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.en
dc.language.isoenen
dc.relation.urlhttps://dx.doi.org/10.1038/s41572-019-0113-0en
dc.titleChromosome instability syndromesen
dc.typeArticleen
dc.contributor.departmentInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UKen
dc.identifier.journalNature Reviews Disease Primersen
dc.description.noteen]


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