DNA repair and colorectal cancer

DNA repair and colorectal cancer
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DOI:
10.1016/s0889-8553(05)70273-9
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发表时间:
1996-12-01
影响因子:
3.7
通讯作者:
Boland, CR
Boland, CR
中科院分区:
医学3区
文献类型:
--
作者:
Marra, G;Boland, CR

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错配修复系统在重组中间体的加工以及修复DNA复制过程中产生的错误或DNA化学损伤导致的错误方面发挥着重要作用。细菌和酵母错配修复基因的人类同源基因最近已被确定,并且发现这些基因的突变在遗传性非息肉病性结直肠癌综合征(HNPCC)中显示出肿瘤发生的风险。在这些错配修复基因中携带纯合突变的结直肠肿瘤表现出一种高突变表型,主要在DNA的微卫星区域。错配修复活性的丧失与参与HNPCC肿瘤致癌作用的关键基因的突变级联之间的时间关系尚不清楚。
The mismatch repair system plays a major role in the processing of recombination intermediates and in the repair of errors made during DNA replication or resulting from chemical damage to DNA. Human homologues of the bacterial and yeast mismatch repair genes have been recently identified, and mutations in these genes have been found to show risk for tumor development in hereditary nonpolyposis colorectal cancer syndrome (HNPCC). Colorectal tumors bearing homozygous mutations in these mismatch repair genes show a hypermutable phenotype, mainly at microsatellite regions of DNA. The temporal relationship between the loss of mismatch repair activity and the cascades of mutations in critical genes involved in the carcinogenesis of HNPCC tumors is unknown.