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人类实体瘤的细胞遗传学和分子遗传学

Cytogenetics and molecular genetics of human solid tumours.

作者信息

Sahlin P, Stenman G

机构信息

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

出版信息

Scand J Plast Reconstr Surg Hand Surg. 1995 Jun;29(2):101-10. doi: 10.3109/02844319509034326.

Abstract

It is generally accepted that cancer is a genetic disease resulting from the accumulation of multiple genomic rearrangements. These rearrangements involve gross chromosomal abnormalities (e.g. translocations and deletions) as well as submicroscopic mutations affecting both oncogenes and tumour suppressor genes. Recent studies of several tumour specific translocations in sarcomas have shown that the translocations result in so-called fusion genes. In this review we will discuss the specificity and implications of different genetic alterations in both sporadic and hereditary human solid tumours, and provide examples of how these changes can be used as tumour specific markers of both diagnostic and prognostic significance.

摘要

人们普遍认为,癌症是一种由多种基因组重排积累导致的遗传疾病。这些重排涉及染色体的明显异常(如易位和缺失)以及影响癌基因和肿瘤抑制基因的亚显微突变。最近对肉瘤中几种肿瘤特异性易位的研究表明,这些易位会导致所谓的融合基因。在这篇综述中,我们将讨论散发性和遗传性人类实体瘤中不同基因改变的特异性及影响,并举例说明这些变化如何用作具有诊断和预后意义的肿瘤特异性标志物。

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