Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers.
Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers.
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DOI：
10.1007/s12185-017-2283-4
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发表时间：
2017-09
影响因子：
2.1
通讯作者：
Taniguchi T
中科院分区：
文献类型：
--
作者：
Cheung RS;Taniguchi T
范可尼贫血（FA）是最常见的遗传性骨髓衰竭，易患白血病和实体瘤。FA是由修复DNA链间交联的细胞途径的遗传破坏引起的。该途径的功能受损以及由此导致的遗传不稳定性被认为是该疾病背后的主要致病机制。乳腺癌易感基因（例如BRCA 1/FANCS和BRCA 2/FANCD 1）作为FA通路的主要参与者的鉴定导致了分子研究的激增，从而产生了FA-BRCA通路的概念。在这篇综述中，我们从三个角度讨论了FA的分子发病机制的最新进展：i）新的FA基因，ii）影响FA的细胞和临床表型的修饰剂途径和iii）FA基因的非经典功能，可能独立于DNA修复缺陷驱动疾病进展。还将提出与每种相关的FA的潜在治疗方法。
Fanconi anemia (FA), the most common form of inherited bone marrow failure, predisposes to leukemia and solid tumors. FA is caused by the genetic disruption of a cellular pathway that repairs DNA interstrand crosslinks. The impaired function of this pathway, and the genetic instability that results, is considered the main pathogenic mechanism behind this disease. The identification of breast cancer susceptibility genes (for example, BRCA1/FANCS and BRCA2/FANCD1) as being major players in the FA pathway has led to a surge in molecular studies, resulting in the concept of the FA-BRCA pathway. In this review, we discuss recent advances in the molecular pathogenesis of FA from three viewpoints: i) new FA genes, ii) modifier pathways that influence the cellular and clinical phenotypes of FA and iii) non-canonical functions of FA genes that may drive disease progression independently of deficient DNA repair. Potential therapeutic approaches for FA that are relevant to each will also be proposed.
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影响因子：
5.2
作者：
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通讯作者：
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