Correlation of BRCA2 gene mutation and prognosis as well as variant genes in invasive urothelial carcinoma of the bladder
Correlation of BRCA2 gene mutation and prognosis as well as variant genes in invasive urothelial carcinoma of the bladder
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DOI：
10.3233/cbm-182379
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发表时间：
2019-01-01
影响因子：
3.1
通讯作者：
Le, Youwei
中科院分区：
文献类型：
--
作者：
Kuang, Shihang;Li, Huafu;Le, Youwei
背景技术：本研究旨在探讨BRCA2基因突变与浸润性膀胱尿路上皮癌患者预后的相关性及变异基因。预测和探讨BRCA 2在肿瘤发生发展中的可能机制和临床应用价值。方法：从癌症基因组图谱（Cancer Genome Atlas，TCGA）数据库中收集膀胱癌患者数据集。结果：BRCA2突变组患者的预后优于非突变组患者。在下调基因中，CCL 22、CYP2B6、CYP2E1、CYP4F2、HTR1E、HTR1F、KLRC 1、NAPSA、SELL、SFTPA 1、SFTPA 2、SFTPB、SFTPC和STRA8基因在两组间差异显著，而在上调基因中，ELAVL3、NOTUM、TRH和VIP基因在两组间差异显著。同时，BRCA 2中还高度富集了细胞周期、DNA复制、同源重组、卵母细胞减数分裂、泛素介导的蛋白水解、碱基切除修复、卵母细胞成熟、基础转录因子、N多糖生物合成、错配修复、切片小体、嘌呤代谢以及P53和神经营养因子信号通路等基因。提示BRCA2基因突变是一个良好的预后因子，可作为预测膀胱癌患者预后的一个基因。
BACKGROUND: This study aimed to investigate the correlation of BRCA2 gene mutation and prognosis as well as variant genes in patients with invasive urothelial carcinoma of the bladder. It predicted and explored the possible mechanism and clinical value of BRCA2 in the occurrence and development of tumors.METHODS: Data sets of patients with bladder cancer were collected from the Cancer Genome Atlas (TCGA) database. Also the gene expression profile data and clinical information of the BRCA2 mutation group and non-BRCA2 mutation group were downloaded.RESULTS: The prognosis of the BRCA2 mutation group was better than that of the non-mutant group. Among the down-regulated genes, the following genes showed significant differences between the two groups: CCL22, CYP2B6, CYP2E1, CYP4F2, HTR1E, HTR1F, KLRC1, NAPSA, SELL, SFTPA1, SFTPA2, SFTPB, SFTPC and STRA8, while the following genes among the up-regulated genes showed significant differences between the two groups: ELAVL3, NOTUM, TRH and VIP. Meanwhile, the following gene sets were highly enriched in BRCA2: cell cycle, DNA replication, homologous recombination, oocyte meiosis, ubiquitin-mediated proteolysis, base excision repair, progestin mediated oocyte maturation, basal transcription factor, biosynthesis of N polysaccharide, mismatch repair, sliceosome, purine metabolism as well as P53 and neurotrophic factor signaling pathway, etc.CONCLUSION: These findings suggested that the BRCA2 gene mutation is a good prognostic factor and can be used as a gene to predict the prognosis in the bladder cancer patients.