Detection of CHK1 and CCND1 gene copy number changes in breast cancer with dual-colour fluorescence in-situ hybridization
Detection of CHK1 and CCND1 gene copy number changes in breast cancer with dual-colour fluorescence in-situ hybridization
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双色荧光原位杂交检测乳腺癌CHK1和CCND1基因拷贝数变化
DOI：
10.1111/j.1365-2559.2011.03780.x
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发表时间：
2011-03-01
期刊：
影响因子：
6.4
通讯作者：
Zhou, Gengyin
中科院分区：
文献类型：
--
作者：
Mu, Kun;Li, Li;Zhou, Gengyin
目的：应用双色荧光原位杂交（dual-colorfluorescence in-situ hybridization，FISH）技术，对61例乳腺浸润性导管癌（infiltrating ductal carcinoma in situ，DCIS）组织中CCND 1和CHK 1基因拷贝数的变化进行对比研究，探讨CCND 1扩增和CHK 1缺失在乳腺癌发生、发展中的作用。CCND 1基因扩增与CHK 1基因缺失之间存在显著相关性（P < 0.0001）。检测到14例CCND 1扩增和CHK 1缺失。有趣的是，当比较同一肿瘤的浸润性和非浸润性区域时，我们发现三例CCND 1扩增发生在浸润性区域，而不是DCIS区域。我们没有发现CHK 1基因谱之间的差异浸润和DCIS地区在同一lesions.Conclusions：我们的研究结果表明，CCND 1扩增和CHK 1缺失是常见的事件在乳腺癌中，这两个遗传改变往往共存。我们的数据还表明，CHK 1缺失是乳腺癌发展的早期遗传事件，可以在DCIS阶段检测到，而CCND 1扩增更可能与肿瘤进展相关。
Aims:To investigate the correlation between CCND1 amplification and CHK1 deletion in breast cancer, and to explore their role in tumorigenesis and progression, a comparative study of the gene copy number changes of CCND1 and CHK1 was performed with dual-colour fluorescence in-situ hybridization (FISH).Methods and results:Sixty-one infiltrating ductal breast carcinomas with foci of ductal carcinoma in situ (DCIS) components were selected for dual-colour FISH. A strong correlation was found between CCND1 amplification and CHK1 deletion (P < 0.0001). Fourteen cases were detected that demonstrated both CCND1 amplification and CHK1 deletion. Interestingly, when comparing the infiltrating and non-invasive areas for the same tumour, we found three cases with CCND1 amplification in the infiltrating areas but not in the DCIS areas. We did not find a CHK1 gene profile difference between infiltrating and DCIS areas in the same lesions.Conclusions:Our findings suggest that CCND1 amplification and CHK1 deletion are common events in breast cancer, and that the two genetic alterations often coexist. Our data also suggest that CHK1 deletion is an early genetic event in the development of breast cancer and can be detected at the DCIS stage, whereas CCND1 amplification is more likely to be associated with tumour progression.