Genetic instability in human mismatch repair deficient cancers
Genetic instability in human mismatch repair deficient cancers
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DOI：
10.1016/s0003-3995(02)01115-2
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发表时间：
2002-04-01
期刊：
影响因子：
--
通讯作者：
Hamelin, R
中科院分区：
文献类型：
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作者：
Duval, A;Hamelin, R
显示微卫星不稳定性（MSI-H）的癌症是常见的肿瘤，其特征在于错配修复（MMR）基因的失活改变，导致无法识别和修复DNA复制期间发生的错误。这些癌症可以像人类非息肉病性结直肠癌综合征一样遗传，或者可以在10-15%的结直肠癌、胃癌和子宫内膜癌中零星发生。MSI-H肿瘤与没有这种表型的癌症（称为MSS）相比具有不同的临床病理学特征，并且认为两种表型的肿瘤进展所涉及的遗传事件库是不同的。在MSI-H肿瘤中，大多数遗传变化发生在非编码和编码微卫星上，由于其重复序列，这些微卫星在复制过程中特别容易出错。这种机制似乎是主要的“遗传途径”，通过这种途径，具有推定致癌效应的功能变化在这些肿瘤中积累。(C)2002年，Elsevier SAS科学与医学版。All rights reserved.
Cancers showing microsatellite instability (MSI-H) are frequent tumors characterized by inactivating alterations of mismatch repair (MMR) genes that lead to an incapacity to recognize and repair errors that occur during DNA replication. These cancers can be inherited as in the human non-polyposis colorectal cancer syndrome, or can occur sporadically in 10-15% of colorectal, gastric and endometrial cancers. MSI-H tumors have different clinicopathological features compared to cancers without this phenotype, termed MSS, and the repertoire of genetic events involved in tumoral progression of both phenotypes is thought to be different. In MSI-H tumors, most of the genetic changes occur at both non-coding and coding microsatellites that are particularly prone to errors during replication due to their repetitive sequence. This mechanism appears to be the main "genetic pathway" by which functional changes with putative oncogenic effects are accumulated in these tumors. (C) 2002 Editions scientitiques et medicales Elsevier SAS. All rights reserved.