Chromosome instability syndromes

Research output: Contribution to journal › Review › Research › peer-review

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

In: Nature Reviews. Disease Primers, Vol. 5, 64, 2019.

Research output: Contribution to journal › Review › Research › peer-review

Harvard

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, 64. https://doi.org/10.1038/s41572-019-0113-0

APA

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, 5, [64]. https://doi.org/10.1038/s41572-019-0113-0

Vancouver

Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO et al. Chromosome instability syndromes. Nature Reviews. Disease Primers. 2019;5. 64. https://doi.org/10.1038/s41572-019-0113-0

Author

Taylor, A. Malcolm R. ; Rothblum-Oviatt, Cynthia ; Ellis, Nathan A. ; Hickson, Ian D. ; Meyer, Stefan ; Crawford, Thomas O. ; Smogorzewska, Agata ; Pietrucha, Barbara ; Weemaes, Corry ; Stewart, Grant S. / Chromosome instability syndromes. In: Nature Reviews. Disease Primers. 2019 ; Vol. 5.

Bibtex

@article{f46eebfacebf4fefb1accfae4535721f,
title = "Chromosome instability syndromes",
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.",
author = "Taylor, {A. Malcolm R.} and Cynthia Rothblum-Oviatt and Ellis, {Nathan A.} and Hickson, {Ian D.} and Stefan Meyer and Crawford, {Thomas O.} and Agata Smogorzewska and Barbara Pietrucha and Corry Weemaes and Stewart, {Grant S.}",
year = "2019",
doi = "10.1038/s41572-019-0113-0",
language = "English",
volume = "5",
journal = "Nature Reviews. Disease Primers",
issn = "2056-676X",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Chromosome instability syndromes

AU - Taylor, A. Malcolm R.

AU - Rothblum-Oviatt, Cynthia

AU - Ellis, Nathan A.

AU - Hickson, Ian D.

AU - Meyer, Stefan

AU - Crawford, Thomas O.

AU - Smogorzewska, Agata

AU - Pietrucha, Barbara

AU - Weemaes, Corry

AU - Stewart, Grant S.

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

U2 - 10.1038/s41572-019-0113-0

DO - 10.1038/s41572-019-0113-0

M3 - Review

C2 - 31537806

AN - SCOPUS:85072400751

VL - 5

JO - Nature Reviews. Disease Primers

JF - Nature Reviews. Disease Primers

SN - 2056-676X

M1 - 64

ER -

ID: 228451644