Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 GeneticVariation disease BEFREE Genomic evaluation in this case was characterized in part by a PBRM1 variant, similar to the only other described case of RCC with rhabdoid features obtaining a complete response to nivolumab. 29965859 2018
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Compared to patients with PBRM1+ BAP1+ tumors those with PBRM1- BAP1+ lesions were more likely to die of renal cell carcinoma (HR 1.39, p = 0.035), followed by those with PBRM1+ BAP1- and PBRM1- BAP1- tumors (HR 3.25 and 5.2, respectively, each p <0.001). 26300218 2016
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE PBRM1 and BAP1 as novel targets for renal cell carcinoma. 23867514 2014
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE We also performed in vitro functional assays on PBRM1 in RCC cell lines. 30256787 2018
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Recurrent secondary molecular alterations in clear cell RCC (BAP1, SETD2, PBRM1, and TP53) and papillary RCC (CDKN2A) may be associated with poor prognosis; however, intratumoral genomic heterogeneity may limit the clinical utility of these molecular biomarkers in renal mass biopsies. 29708949 2018
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE PBRM1 acts as tumor suppressor in RCC, and its downregulation is associated with increased proliferation and aggressive behavior in RCC. 24063284 2013
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Here, we analyzed the expression of PBRM1, the product encoded by PBRM1, in ccRCC cell lines and in more than 300 RCC tumor samples. 22949125 2013
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 AlteredExpression disease BEFREE While in clear cell renal cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and BAP1-mutant clear cell renal cell carcinomas also showed significantly worse prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p = 0.001). 28618948 2017
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Several mutations, including BAP1 and PBRM1, have prognostic value in renal-cell carcinoma. 30416077 2018
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. 21248752 2011
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Two new RCC subtypes were defined by distinct epigenetic and metabolic pathway expression patterns, the hypermethylated CpG island methylator phenotype-associated (CIMP) RCCs and metabolically divergent chRCCs, and new biomarkers of poor patient outcome were identified, including PBRM1 mutation in type 1 pRCC and CDKN2A loss in chRCC. 31278395 2019
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 GeneticVariation disease BEFREE Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma. 26452128 2015
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 GeneticVariation disease BEFREE Renal cell carcinomas (RCCs) are a diverse set of malignancies that have recently been shown to harbour mutations in a number of chromatin modifier genes - including PBRM1, SETD2, BAP1, KDM5C, KDM6A, and MLL2 - through high-throughput sequencing efforts. 30030490 2018
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 GeneticVariation disease BEFREE The four most commonly mutated genes in RCC of clear-cell type (the most common type) are two-hit tumor suppressor genes, and they cluster in a 43-Mb region on chromosome 3p that is deleted in approximately 90% of tumors: VHL (mutated in ∼80%), PBRM1 (∼50%), BAP1 (∼15%), and SETD2 (∼15%). 23832661 2013
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 GeneticVariation disease BEFREE PBRM1 is a tumour suppressor gene and somatic mutations are found in 30-45% of sporadic clear cell (cc) RCC. 25911086 2015
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Data from RNA interference (RNAi) assays suggest that loss of function of PBRM1 drives proliferation and growth of ccRCC, but the clinical relevance of this is unclear and restoring the function of these genes for therapeutic purposes is likely to be challenging. 22249190 2012
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 AlteredExpression disease BEFREE The results showed that decreased expression of PBRM1 is associated with poor overall survival (OS) (HR = 2.11, 95% CI: 1.52-2.96), cancer-specific survival (CSS) (HR = 1.32, 95% CI: 1.10-1.58), and progression-free survival/ recurrence-free survival (PFS/RFS) (HR = 1.57, 95%CI: 1.34-1.85) in RCC. 30006290 2018
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE Notably, mutations in BAP1 and PBRM1 anticorrelate in tumors (P = 3 × 10(-5)), [corrected] and combined loss of BAP1 and PBRM1 in a few RCCs was associated with rhabdoid features (q = 0.0007). 22683710 2012
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease BEFREE As an application of this resource, we discovered RCC GCN edges and modules that were associated with genetic lesions in known RCC driver genes, including VHL, a common initiating clear cell RCC (ccRCC) genetic lesion, and PBRM1 and BAP1 which are early genetic lesions in the Braided Cancer River Model (BCRM). 30814637 2019
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 GeneticVariation disease BEFREE Considering the genes known to be mutated in RCC at significant frequency, PBRM1 mutations were identified in 7 ERs (54%) versus 1 PRP (7%) (P=.01). 27407122 2016
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 AlteredExpression disease BEFREE PBRM1 was expressed at high levels in RCC ACHN cells and lentivirus-mediated PBRM1 knockdown in these cells caused an increase in the proportion of cells in S phase of the cell cycle and promoted in vitro proliferation and migration. 28846693 2017
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1
0.400 Biomarker disease CTD_human Integrated molecular analysis of clear-cell renal cell carcinoma. 23797736 2013