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Interstitial Deletions Generating Fusion Genes.
Cancer Genomics & Proteomics ( IF 2.6 ) Pub Date : 2021-4-25 , DOI: 10.21873/cgp.20251
Ioannis Panagopoulos 1 , Sverre Heim 2, 3
Affiliation  

A fusion gene is the physical juxtaposition of two different genes resulting in a structure consisting of the head of one gene and the tail of the other. Gene fusion is often a primary neoplasia-inducing event in leukemias, lymphomas, solid malignancies as well as benign tumors. Knowledge about fusion genes is crucial not only for our understanding of tumorigenesis, but also for the diagnosis, prognostication, and treatment of cancer. Balanced chromosomal rearrangements, in particular translocations and inversions, are the most frequent genetic events leading to the generation of fusion genes. In the present review, we summarize the existing knowledge on chromosome deletions as a mechanism for fusion gene formation. Such deletions are mostly submicroscopic and, hence, not detected by cytogenetic analyses but by array comparative genome hybridization (aCGH) and/or high throughput sequencing (HTS). They are found across the genome in a variety of neoplasias. As tumors are increasingly analyzed using aCGH and HTS, it is likely that more interstitial deletions giving rise to fusion genes will be found, significantly impacting our understanding and treatment of cancer.

中文翻译:

产生融合基因的间隙缺失。

融合基因是两个不同基因的物理并列,形成由一个基因的头部和另一个基因的尾部组成的结构。基因融合通常是白血病、淋巴瘤、实体恶性肿瘤以及良性肿瘤中的原发性瘤形成诱导事件。有关融合基因的知识不仅对我们了解肿瘤发生至关重要,而且对癌症的诊断、预后和治疗也至关重要。平衡的染色体重排,特别是易位和倒位,是导致融合基因产生的最常见的遗传事件。在本综述中,我们总结了染色体缺失作为融合基因形成机制的现有知识。这种缺失大多是亚微观的,因此,不是通过细胞遗传学分析,而是通过阵列比较基因组杂交 (aCGH) 和/或高通量测序 (HTS) 检测到的。它们存在于各种肿瘤的整个基因组中。随着越来越多地使用 aCGH 和 HTS 分析肿瘤,很可能会发现更多产生融合基因的间质缺失,从而显着影响我们对癌症的理解和治疗。
更新日期:2021-04-27
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