Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also performed in vitro functional assays on PBRM1 in RCC cell lines.
|
30256787 |
2018 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Several mutations, including BAP1 and PBRM1, have prognostic value in renal-cell carcinoma.
|
30416077 |
2018 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
PBRM1 and BAP1 as novel targets for renal cell carcinoma.
|
23867514 |
2014 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
0.400 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
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 |
Renal Cell Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
|
21248752 |
2011 |
Renal Cell Carcinoma
|
0.400 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |