Speicher M R
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Oncol Res. 1995;7(6):267-75.
Tumorigenesis has made tremendous progress through the recent identification of widespread alterations in tumor genomes, manifested as microsatellite instability. Several genes causing microsatellite instability have already been identified. This was considerably facilitated by the knowledge of homologous DNA mismatch repair genes in bacteria and yeast. Correspondingly, the human genes are also tightly linked to DNA mismatch repair. In addition, recent research showed that there must be other--yet unknown--genes that might also cause the genotype of microsatellite instability. Microsatellite instability has also provided a model for the proposed existence of mutator phenotypes by giving an explanation as to how the high number of mutations observed in malignant cells might accumulate. This review focuses on these genes and our current knowledge of their role in tumorigenesis and/or tumor progression. In addition, the occurrence of microsatellite instability in a large variety of tumors is reviewed in detail.
通过近期对肿瘤基因组广泛改变（表现为微卫星不稳定性）的鉴定，肿瘤发生学取得了巨大进展。已经鉴定出了几个导致微卫星不稳定性的基因。细菌和酵母中同源DNA错配修复基因的知识极大地推动了这一进展。相应地，人类基因也与DNA错配修复紧密相关。此外，最近的研究表明，必定存在其他尚未知晓的基因，它们也可能导致微卫星不稳定性的基因型。微卫星不稳定性还为突变体表型的存在提供了一个模型，解释了恶性细胞中观察到的大量突变是如何积累的。本综述聚焦于这些基因以及我们目前对它们在肿瘤发生和/或肿瘤进展中作用的认识。此外，还详细综述了微卫星不稳定性在多种肿瘤中的发生情况。
