中国医学装备2018，Vol.15Issue(6)：93-96,4.DOI:10.3969/J.ISSN.1672-8270.2018.06.025
利用癌症基因组图谱对乳腺癌患者CDH1基因突变分析
Analysis of CDH1 gene mutation of breast carcinoma by applying TCGA
摘要
Abstract
Objective: To analyze the situation of CDH1 gene mutation of breast carcinoma by applying database of the cancer genome atlas (TCGA). Methods: 1098 cases of breast carcinoma which were collected from TCGA database were divided into non-mutation group (986 cases) and mutation group (112 cases) according to whether CDH1 gene occurred mutation. The clinical information of patients were analyzed by using statistics methods, and cBioPortal website was applied to carry out mutation analysis, co-expression analysis of gene, lifetime analysis and other analyses for relevant data set. Results: In the 1098 cases, there were 112 cases (10.4%) occurred CDH1 mutation. And in the 112 cases, most of mutations were Q23* mutation (6 cases). And P127Afs*41 mutation and R63 mutation were 4 cases, respectively. And E243K, R335* and X722_splice were 3 cases, respectively. And N166Mfs*49, Q195*, X646_splice were 2 cases, respectively. Besides, the other 72 cases existed various mutation site. Conclusion: The occurrence rate of CDH1 gene mutation of patients with breast carcinoma is higher (10.1%), and the mutation frequencies of Q23*, P127Afs*41, R63*, E243K, R335*, X722_splice, N166Mfs*49, Q195* and X646_splice are higher. And some of mutations might provide new thinking for researching morbidity, diagnosis and treatment of breast carcinoma.关键词
乳腺癌/E-钙黏蛋白/基因突变/癌症基因组图谱Key words
Breast carcinoma/CDH1/Gene mutation/Database of the cancer genome atlas(TCGA)分类
医药卫生引用本文复制引用
林琳,倪楠,赵海鹰,姜晓峰,涂巍..利用癌症基因组图谱对乳腺癌患者CDH1基因突变分析[J].中国医学装备,2018,15(6):93-96,4.基金项目
辽宁省自然科学基金(2015020507)"自噬抑制剂对不同分子亚型乳腺癌化疗敏感性调控作用及临床转化研究" （2015020507）
