MISMATCH REPAIR GENE DEFECTS IN SPORADIC COLORECTAL CANCERS WITH MICROSATELLITE INSTABILITY
MISMATCH REPAIR GENE DEFECTS IN SPORADIC COLORECTAL CANCERS WITH MICROSATELLITE INSTABILITY
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DOI：
10.1038/ng0195-48
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发表时间：
1995-01-01
期刊：
影响因子：
30.8
通讯作者：
VOGELSTEIN, B
中科院分区：
文献类型：
--
作者：
LIU, B;NICOLAIDES, NC;VOGELSTEIN, B
在散发性和遗传性结直肠癌中均观察到微卫星不稳定性。在遗传形式中，这种不稳定性通常是由于错配修复（MMR）基因中的种系突变。然而，只有十分之一的散发性肿瘤患者表现出微卫星不稳定性有可检测的种系突变。此外，7个散发性肿瘤细胞系中只有3个具有微卫星不稳定性，MMR基因突变，这些突变可能发生体细胞。这些结果表明，肿瘤可以获得体细胞突变，推测不会直接影响细胞生长，但只会导致遗传不稳定。他们还表明，许多具有微卫星不稳定性的散发性肿瘤除了目前已知参与MMR的四个基因外，还有其他基因的改变。
Microsatellite instability has been observed in both sporadic and hereditary forms of colorectal cancer. In the hereditary form, this instability is generally due to germline mutations in mismatch repair (MMR) genes. However, only one in ten patients with sporadic tumours exhibiting microsatellite instability had a detectable germline mutation. Moreover, only three of seven sporadic tumour cell lines with microsatellite instability had mutations in a MMR gene, and these mutations could occur somatically. These results demonstrate that tumours can acquire somatic mutations that presumably do not directly affect cell growth but result only in genetic instability. They also suggest that many sporadic tumours with microsatellite instability have alterations in genes other than the four now known to participate in MMR.