Chromosome instability syndromes

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

doi:10.1038/s41572-019-0113-0

Chromosome instability syndromes

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

17 Citationer (Scopus)

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.

Originalsprog	Engelsk
Artikelnummer	64
Tidsskrift	Nature Reviews. Disease Primers
Vol/bind	5
Antal sider	20
ISSN	2056-676X
DOI	https://doi.org/10.1038/s41572-019-0113-0
Status	Udgivet - 1 dec. 2019

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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.",

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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 - 2019/12/1

Y1 - 2019/12/1

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.

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DO - 10.1038/s41572-019-0113-0

M3 - Review

C2 - 31537806

AN - SCOPUS:85072400751

SN - 2056-676X

VL - 5

JO - Nature Reviews. Disease Primers

JF - Nature Reviews. Disease Primers

M1 - 64

ER -

Chromosome instability syndromes

Abstract

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