Li Xiao-Chen, Liu Chenglin, Huang Tao, Zhong Yang
School of Life Sciences, Fudan University, Shanghai 200433, China.
School of Life Sciences and Biotechnology, Shanghai Jiaotong University, Shanghai 200240, China.
Biomed Res Int. 2016;2016:5237827. doi: 10.1155/2016/5237827. Epub 2016 Apr 14.
The interrelationship among genetic variations between the developing process of carcinoma and the order of occurrence has not been completely understood. Interpreting the mechanisms of copy number variation (CNV) is absolutely necessary for understanding the etiology of genetic disorders. Oncogenetic tree is a special phylogenetic tree inferential pictorial representation of oncogenesis. In our present study, we constructed oncogenetic tree to imitate the occurrence of genetic and cytogenetic alterations in human breast cancer. The oncogenetic tree model was built on CNV of ErbB2, AKT2, KRAS, PIK3CA, PTEN, and CCND1 genes in 963 cases of tumors with sequencing and CNA data of human breast cancer from TCGA. Results from the oncogenetic tree model indicate that ErbB2 copy number variation is the frequent early event of human breast cancer. The oncogenetic tree model based on the phylogenetic tree is a type of mathematical model that may eventually provide a better way to understand the process of oncogenesis.
癌症发生发展过程中基因变异之间的相互关系以及发生顺序尚未完全明晰。解读拷贝数变异（CNV）的机制对于理解遗传疾病的病因绝对必要。肿瘤发生树是肿瘤发生过程的一种特殊系统发育树推断性图形表示。在我们目前的研究中，我们构建肿瘤发生树以模拟人类乳腺癌中遗传和细胞遗传学改变的发生情况。该肿瘤发生树模型基于来自TCGA的963例具有测序和CNA数据的人类乳腺癌肿瘤中ErbB2、AKT2、KRAS、PIK3CA、PTEN和CCND1基因的CNV构建。肿瘤发生树模型的结果表明，ErbB2拷贝数变异是人类乳腺癌常见的早期事件。基于系统发育树的肿瘤发生树模型是一种数学模型，最终可能会为理解肿瘤发生过程提供更好的方法。
