Chromosome instability syndromes.,Nature Reviews Disease Primers

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Chromosome instability syndromes.
Nature Reviews Disease Primers ( IF 76.9 ) Pub Date : 2019-09-19 , DOI: 10.1038/s41572-019-0113-0
A Malcolm R Taylor ₁ , Cynthia Rothblum-Oviatt ₂ , Nathan A Ellis ₃ , Ian D Hickson ₄ , Stefan Meyer _{5,

6} , Thomas O Crawford ₇ , Agata Smogorzewska ₈ , Barbara Pietrucha ₉ , Corry Weemaes ₁₀ , Grant S Stewart ₁

Affiliation

Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
A-T Children's Project, Coconut Creek, FL, USA.
The University of Arizona Cancer Center, Tucson, AZ, USA.
Center for Chromosome Stability, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Stem Cell and Leukaemia Proteomics Laboratory, and Paediatric and Adolescent Oncology, Institute of Cancer Sciences, University of Manchester, Manchester, UK.
Department of Paediatric and Adolescent Haematology and Oncology, Royal Manchester Children's Hospital and The Christie NHS Trust, Manchester, UK.
Department of Neurology and Pediatrics, Johns Hopkins University, Baltimore, MD, USA.
Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA.
Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Pediatrics (Pediatric Immunology), Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.

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.

中文翻译：

染色体不稳定综合征。

范可尼贫血 (FA)、共济失调性毛细血管扩张症 (AT)、奈梅亨断裂综合征 (NBS) 和布卢姆综合征 (BS) 是临床上不同的染色体不稳定（或断裂）疾病。每种疾病都有其自己的染色体损伤模式，这些患者的细胞对特定的基因毒性药物过敏，这表明每种情况下的潜在缺陷可能不同。此外，每种综合症都显示出患癌症的倾向。对这些疾病的分子和遗传基础的研究揭示了 DNA 双链断裂、DNA 链间交联和 DNA 复制过程中 DNA 损伤的识别和修复机制。每种疾病的专科诊所都提供了解决其特有的临床问题和改善结果所需的专业知识。尽管某些疾病后果的治疗方法是可能的，例如 FA 和 NBS 中的造血干细胞移植，但未来预防疾病并发症的早期干预将取决于对受影响的 DNA 修复途径在发育中的作用的更深入的了解。一个重要的认识是，某些基因突变的携带者容易患癌症。

更新日期：2019-09-19

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