Limited studies on breast cancer indicated pathogenic changes in the expressions of some repeat elements. A global analysis was much needed within this context to distinguish the most significant repeats from more than a thousand repeat motifs. Utilising a previously presented RNA-seq dataset, we studied expression changes of all repeats in ER+/HER2- human breast tumour samples obtained from 22 patients in comparison to matched normal tissues. Fifty six (56) repeat subtypes including satellites and transposons were found to be differentially expressed and most of them were novel for breast cancer. HERVKC4-int and HERV1_LTRc, whose expressions correlated well with that of the estrogen receptor gene ESR1, were upregulated at the highest level. REP522 and D20S16 satellites were also significantly upregulated along with insignificant increases in the expressions of other satellites including HSATI and BSR/beta. Interestingly, expressions of REP522 and D20S16 correlated with many key breast cancer pathway (e.g. BRCA1, BRCA2, AKT1, MTOR, KRAS) and survival genes; possibly highlighting their importance in the carcinogenesis of breast. Additional differentially expressed elements such as L1P and various MER transposons also exhibited a similar pattern. Finally, our repeat enrichment analysis on the promoters of differentially expressed genes revealed further links between additional repeats and nearby genes.

对乳腺癌的有限研究表明某些重复元件的表达发生了致病性变化。在这种情况下，需要进行全局分析以将最重要的重复与上千个重复基序区分开。利用先前提出的RNA-seq数据集，我们研究了从22名患者获得的ER + / HER2-人乳腺肿瘤样品中所有重复序列与匹配的正常组织相比的表达变化。发现包括卫星和转座子在内的五十六（56）个重复亚型差异表达，其中大多数对于乳腺癌是新颖的。HERVKC4-int和HERV1_LTRc的表达与雌激素受体基因ESR1的表达高度相关，并在最高水平上调。REP522和D20S16卫星也被显着上调，包括HSATI和BSR / beta在内的其他卫星的表达也没有明显增加。有趣的是，REP522和D20S16的表达与许多关键的乳腺癌途径（例如BRCA1，BRCA2，AKT1，MTOR，KRAS）和存活基因相关。可能突出了它们在乳腺癌致癌中的重要性。其他差异表达元件，如L1P和各种MER转座子，也表现出相似的模式。最后，我们对差异表达基因启动子的重复序列富集分析揭示了其他重复序列与附近基因之间的进一步联系。KRAS）和生存基因；可能突出了它们在乳腺癌致癌中的重要性。其他差异表达元件，如L1P和各种MER转座子，也表现出相似的模式。最后，我们对差异表达基因启动子的重复序列富集分析揭示了其他重复序列与附近基因之间的进一步联系。KRAS）和生存基因；可能突出了它们在乳腺癌致癌中的重要性。其他差异表达元件，如L1P和各种MER转座子，也表现出相似的模式。最后，我们对差异表达基因启动子的重复序列富集分析揭示了其他重复序列与附近基因之间的进一步联系。