Infrequent occurrence of microsatellite instability in sporadic and familial breast cancer.
Infrequent occurrence of microsatellite instability in sporadic and familial breast cancer.
复制标题
散发性和家族性乳腺癌中很少发生微卫星不稳定性。
DOI：
10.1016/0959-8049(95)00447-5
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发表时间：
1995
影响因子：
8.4
通讯作者：
Å. Borg
中科院分区：
文献类型：
--
作者：
M. Jönsson;O. Johannsson;Å. Borg
在93例原发性乳腺肿瘤中分析了13个在乳腺癌中经常改变的染色体位点的微卫星不稳定性。在散发性、家族性和遗传性乳腺肿瘤以及多原发癌患者的乳腺肿瘤中，观察到RER（复制错误）的频率较低（5%）。我们的研究表明RER+表型在乳腺肿瘤中很少见，并且乳腺癌不包括在遗传性非息肉病性结肠癌（HNPCC）综合征中。此外，RER+肿瘤揭示了一个非典型的模式，微卫星改变相比，通常在HNPCC肿瘤。与HNPCC肿瘤中的发现一致，所有RER+乳腺肿瘤均为二倍体，尽管与RER-肿瘤具有相似的等位基因失衡频率。因此，错配修复缺陷在乳腺癌中是罕见的，最有可能是由体细胞突变引起的，并且可能是在一组DNA修复基因中，与HNPCC综合征中所涉及的基因不同。
Microsatellite instability was analysed in 93 primary breast tumours at 13 chromosomal loci frequently altered in breast cancer. RER (replication errors) were observed at a low (5%) frequency in sporadic, familial and hereditary breast tumours, as well as in breast tumours from patients with multiple primary cancers. Our study suggests that the RER+ phenotype is rare in breast tumours, and that breast cancer is not included in the hereditary non-polyposis colon cancer (HNPCC) syndrome. Moreover, the RER+ tumours revealed an atypical pattern of microsatellite alteration as compared with those usually seen in HNPCC tumours. In agreement with the findings in HNPCC tumours, all RER+ breast tumours were diploid, although having a similar frequency of allelic imbalance as RER— tumours. Thus, mismatch repair deficiency is rare in breast cancer, is most likely caused by somatic mutations, and possibly in a set of DNA repair genes different from that involved in the HNPCC syndrome.
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影响因子：
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作者：
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