Chromosome instability syndromes

A. Malcolm R. Taylor, Cynthia Rothblum-Oviatt, Nathan A. Ellis, Ian D. Hickson, Stefan Meyer, Thomas Owen Crawford, Agata Smogorzewska, Barbara Pietrucha, Corry Weemaes, Grant S. Stewart

Research output: Contribution to journalReview article

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.

Original languageEnglish (US)
Number of pages1
JournalNature reviews. Disease primers
Volume5
Issue number1
DOIs
StatePublished - Sep 19 2019

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Nijmegen Breakage Syndrome
DNA Repair-Deficiency Disorders
Fanconi Anemia
DNA Repair
Bloom Syndrome
Chromosome Breakage
Ataxia Telangiectasia
Chromosomal Instability
Inborn Genetic Diseases
Double-Stranded DNA Breaks
Hematopoietic Stem Cell Transplantation
DNA Replication
DNA Damage
Molecular Biology
Neoplasms
Mutation
Pharmaceutical Preparations
Genes
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Taylor, A. M. R., Rothblum-Oviatt, C., Ellis, N. A., Hickson, I. D., Meyer, S., Crawford, T. O., ... Stewart, G. S. (2019). Chromosome instability syndromes. Nature reviews. Disease primers, 5(1). https://doi.org/10.1038/s41572-019-0113-0

Chromosome instability syndromes. / Taylor, A. Malcolm R.; Rothblum-Oviatt, Cynthia; Ellis, Nathan A.; Hickson, Ian D.; Meyer, Stefan; Crawford, Thomas Owen; Smogorzewska, Agata; Pietrucha, Barbara; Weemaes, Corry; Stewart, Grant S.

In: Nature reviews. Disease primers, Vol. 5, No. 1, 19.09.2019.

Research output: Contribution to journalReview article

Taylor, AMR, Rothblum-Oviatt, C, Ellis, NA, Hickson, ID, Meyer, S, Crawford, TO, Smogorzewska, A, Pietrucha, B, Weemaes, C & Stewart, GS 2019, 'Chromosome instability syndromes', Nature reviews. Disease primers, vol. 5, no. 1. https://doi.org/10.1038/s41572-019-0113-0
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO et al. Chromosome instability syndromes. Nature reviews. Disease primers. 2019 Sep 19;5(1). https://doi.org/10.1038/s41572-019-0113-0
Taylor, A. Malcolm R. ; Rothblum-Oviatt, Cynthia ; Ellis, Nathan A. ; Hickson, Ian D. ; Meyer, Stefan ; Crawford, Thomas Owen ; Smogorzewska, Agata ; Pietrucha, Barbara ; Weemaes, Corry ; Stewart, Grant S. / Chromosome instability syndromes. In: Nature reviews. Disease primers. 2019 ; Vol. 5, No. 1.
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