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.
Keywords: BRCA2 gene mutation; bladder cancer; invasive urothelial carcinoma.