The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Chromosome instability syndromes
Open accessAbstract
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.Fanconi anaemia, ataxia telangiectasia, Nijmegen breakage syndrome and Bloom syndrome are rare, clinically distinct, chromosome instability syndromes. This Primer describes the understanding of the genetic and molecular basis of these disorders, including the relationship of the defects to the predisposition to cancer.
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Cites
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Cited by
Targeting DNA damage response pathways in cancer
Groelly, F. J., Fawkes, M., Dagg, R. A., Blackford, A. N., & Tarsounas, M. (2023) · Nature Reviews Cancer · doi:10.1038/s41568-022-00535-5 · Cited by 836
Aguado, J., Chaggar, H. K., Gómez‐Inclán, C., Shaker, M. R., Leeson, H. C., Mackay‐Sim, A., & Wolvetang, E. J. (2021) · Aging Cell · doi:10.1111/acel.13468 · Cited by 92
Fleury, H., MacEachern, M. K., Stiefel, C. M., Anand, R., Sempeck, C., Nebenfuehr, B., Maurer-Alcalá, K., Ball, K., Proctor, B., Belan, O., et al. (2023) · Molecular Cell · doi:10.1016/j.molcel.2023.03.017 · Cited by 52
Metadata
- Authors
- Taylor, A. M. R., Rothblum-Oviatt, C., Ellis, N. A., Hickson, I. D., Meyer, S., Crawford, T. O., Smogorzewska, A., Pietrucha, B., Weemaes, C., & Stewart, G. S.
- Venue
- Nature Reviews Disease Primers
- Published
- 2019-09-19
- Volume
- 5
- Issue
- 1
- Pages
- 64-64
- ISSN
- 2056-676X (ISSN-L)
- OpenAlex
- W2974568482
- Cited by
- 222
- References
- 23
- FWCI
- 1.65
- Type
- journal article
- Language
- en
- Open access
- green
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- Taylor, A. M. R., Rothblum-Oviatt, C., Ellis, N. A., Hickson, I. D., Meyer, S., Crawford, T. O., Smogorzewska, A., Pietrucha, B., Weemaes, C., & Stewart, G. S. (2019). Chromosome instability syndromes. Nature Reviews Disease Primers. https://doi.org/10.1038/s41572-019-0113-0
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