论文部分内容阅读
该研究通过整合4个功能诠释数据库(KEGG、GO、WIKI和PC)共发现56条DNA修复相关通路,确定了725个功能基因;并在筛查CCLE肿瘤细胞系和TCGA乳腺癌基因组数据的基础上,发现了89个乳腺癌特异性的拷贝数变异基因,其中包含了4个DNA修复相关的基因[BRCA1(breast cancer 1,early onset)、ERBB2(erb-b2 receptor tyrosine kinase 2)、G6PC(glucose-6-phosphatase,catalytic subunit)和PSME3(proteasome(prosome,macropain)activator subunit 3(PA28 gamma;Ki))]。进一步生物信息分析表明,乳腺癌基因组中17q21.31区域的拷贝数变异可通过改变BRCA1和PSME3基因的表达,从而影响DNA修复功能(如双链的断裂修复和DNA损伤相关检测点)。
In this study, 56 DNA repair-related pathways were identified by integrating four functional interpretation databases (KEGG, GO, WIKI and PC), and 725 functional genes were identified; and the basis of screening genomic data of CCLE tumor cell lines and TCGA breast cancer , 89 breast cancer-specific copy number variation genes were found, including 4 DNA repair-related genes [BRCA1 (early onset), ERBB2 (erb-b2 receptor tyrosine kinase 2), G6PC glucose-6-phosphatase, catalytic subunit and proteasome (prosome, macrophage) activator subunit 3 (PA28 gamma; Ki)). Further bioinformatics analysis showed that copy number variation in the 17q21.31 region of the breast cancer genome affected DNA repair functions (eg, detection of double-strand breaks and DNA damage) by altering the expression of BRCA1 and PSME3 genes.