天津医药 ›› 2017, Vol. 45 ›› Issue (12): 1289-1292.doi: 10.11958/20170801

• 临床研究 • 上一篇    下一篇

基于 TCGA 数据集探讨 FAT2 基因在上皮性#br# 卵巢癌中的作用及机制 #br# #br#

翟惠惠 1, 赵洪波 2, 张琴 1, 杨丽华 1△   

  1. 基金项目: 云南省医学学科带头人培养项目 (D-201633) 作者单位: 1 昆明医科大学第二附属医院妇科 (邮编 650101); 2 昆明医科大学 作者简介: 翟惠惠 (1992), 女, 硕士在读, 主要从事生物信息学分析基因在妇科肿瘤中的作用与机制研究 △通讯作者 E-mail:yanglihua0628@163.com
  • 收稿日期:2017-07-12 修回日期:2017-08-13 出版日期:2017-12-15 发布日期:2017-12-15
  • 通讯作者: 翟惠惠 E-mail:1184935399@qq.com
  • 基金资助:
    血根碱对卵巢癌细胞的作用及机理研究

The role and mechanism analysis of FAT2 gene in the ovarian epithelial carcinoma based on TCGA datasets

ZHAI Hui-hui1, ZHAO Hong-bo2, ZHANG Qin1, YANG Li-hua1△   

  1. 1 Department of Gynaecology, the 2nd Affiliated Hospital of Kunming Medical University, Kunming 650101, China; 2 Kunming Medical University △Corresponding Author E-mail: yanglihua0628@163.com
  • Received:2017-07-12 Revised:2017-08-13 Published:2017-12-15 Online:2017-12-15
  • Contact: Huihui ZHAI E-mail:1184935399@qq.com

摘要: 摘要: 目的 基于肿瘤基因图谱(TCGA)数据集研究脂肪非典型钙黏蛋白 2(FAT2)基因在卵巢癌中的表达情 况, 预测并分析 FAT2 在卵巢癌发生发展中的可能机制及临床价值。方法 应用 cbioprotal 在线分析平台分析 TCGA 数据库中 311 例上皮性卵巢癌 RNA-SEQ 数据, 并结合患者的完整生存期信息, 采用 Kaplan-Meier 法分析 FAT2 变异与卵巢癌患者生存之间的关系。应用 genecards 数据库收集与 FAT2 基因相关的蛋白, 绘制 FAT2 相关蛋 白网络图, 对相关蛋白进行富集分析, 分析蛋白富集的信号通路、 生理过程及关键下游基因。结果 311 例卵巢癌样 本中有 12 例发生 FAT2 基因变异, 变异率为 4%, 扩增 7 例(2.3%), 错义突变 3 例(1%), 缺失 2 例(0.6%)。Kaplan Meier 生存曲线分析表明, FAT2 变异组总生存时间长于无变异组 (P=0.033 8), 无病生存时间与无变异组差异无统计 学意义 (P=0.387)。与 FAT2 相关的蛋白有 CTNNB1、 ARVCF、 CTNND1 等 21 个, 其中 CTNNB1 蛋白在卵巢癌中低表 达, 相关蛋白富集分析到 Wnt 信号通路、 细胞黏附等细胞生理活动。结论 FAT2 基因可能可通过诱导 Wnt 通路中 的关键蛋白 CTNNB1 降解发挥抑癌基因的作用。卵巢癌组织中 FAT2 高表达是一种预后良好指标, 可作为预测患者 生存时间, 判断预后的有效生物标志物。

关键词: 卵巢肿瘤, 上皮性卵巢癌, FAT2, Wnt 信号通路, cbioprotal, genecards

Abstract: ponding Author E-mail: yang Abstract: Objective To discuss the role of FAT2 gene in the ovarian epithelial carcinoma (OEC) and predict and analyze the possible mechanism and clinical value of FAT2 in the occurrence and development of ovarian cancer. Methods Data of 311 patients with OEC in the TCGA database were analyzed by cbioprotal online analysis platform. Kaplan-Meier method was used to analyze the relationship between the FAT2 genetic alteration and ovarian cancer survival. The FAT2 gene related proteins, protein network and enrichment analysis were performed by GeneCards database. Results In 311 patients, mutation of FAT2 gene was found in 12 patients with a mutation rate of 4%, amplification in 7 cases (2.3%), multiple mutations in 3 cases (1%) and deletion in 2 cases (0.6%). Kaplan-Meier curve showed that the total survival of patients with FAT2 genetic alteration was significantly longer than that in patients without FAT2 genetic alteration (P=0.033 8). There was no significant difference in the disease-free survival time between the two groups (P=0.387). Twenty-one FAT2 related protein, such as CTNNB1, ARVCF and CTNND1 were down expressed in OEC tissues. The FAT2 related protein enrichment was analyzed, and Wnt signaling pathway, cell-cell adhesion and other cell physiological activities were found. Conclusion FAT2 may play the role in cancer suppressor gene in OEC, which induces the degradation of key protein CTNNB1 in Wnt pathway. The Over expression of FAT2 might be a good prognostic factor in ovarian cancer and can be used as a potential prognostic marker and a therapeutic target.

Key words: ovarian neoplasms, ovarian epithelail cancer, FAT2, Wnt signaling pathway, cbioprotal, genecards