PBRM1, polybromo 1, 55193

N. diseases: 105; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 GeneticVariation phenotype BEFREE These findings indicate that PBRM1 mutation (and resultant loss of expression) is a late event during biliary carcinogenesis. 28394406 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 AlteredExpression phenotype BEFREE In vivo experiments showed that downregulation of PBRM1 promoted tumorigenesis in nude mice. 28846693 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 GeneticVariation phenotype BEFREE However, the biological consequences of PBRM1 mutations for kidney tumorigenesis are unknown. 28329682 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 Biomarker phenotype BEFREE Loss of PBRM1 rescues VHL dependent replication stress to promote renal carcinogenesis. 29229903 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 GeneticVariation phenotype BEFREE In summary, this study provided some important insights into the understanding of tumorigenesis driven by PBRM1 truncated mutations in ccRCC. 27556922 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 GeneticVariation phenotype BEFREE Mutation of PBRM1 is believed to be an early event in carcinogenesis, however its function as a tumor suppressor is not understood. 27100670 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 AlteredExpression phenotype BEFREE Growing evidence indicates that dys-regulation of PBRM1 contributes to tumorigenesis. 25978027 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 Biomarker phenotype BEFREE Based on data from yeast, we hypothesized that BAF180 may prevent tumorigenesis by promoting cohesion. 24613357 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.090 Biomarker phenotype BEFREE We conclude that BAF180 suppresses tumorigenesis, at least in part, through its ability to regulate p21. 18339845 2008