|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
PBRM1, located on 3p21, functions as a tumor suppressor and somatic mutation of PBRM1 is frequent in clear cell renal cell carcinoma (ccRCC).
|
31720994 |
2020 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
PBRM1 nuclear staining of the 124-immunostained metastases of ccRCC specimens showed that 98 (79.0%) had negative expression and 26 (21.0%) positive expression of PBRM1.
|
30446457 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The evolution patterns of ccRCC have great inter-patient heterogeneities, with del(3p) being regarded as the common earliest event followed by three early departure points: VHL and PBRM1 mutations, del(14q) and other somatic copy number alterations (SCNAs) including amp(7), del(1p) and del(6q).
|
30886153 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PBRM1 p.L641V was detected in the plasma sample of the ccRCC patient with an allele frequency of 0.2%.
|
30986100 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our biochemical and mutational analyses have identified BD4 as being critically important for maintaining proper PBRM1 function and demonstrate that BD4 mutations increase ccRCC cell growth.
|
29986887 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The human polybromo-1 protein (BAF180) is a known driver mutation in clear cell renal cell carcinoma, where it is mutated in approximately 40% of cases.
|
30009957 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
We also performed in vitro functional assays on PBRM1 in RCC cell lines.
|
30256787 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Several mutations, including BAP1 and PBRM1, have prognostic value in renal-cell carcinoma.
|
30416077 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In frozen tissue, PBRM1 and VHL mRNA were significantly down-regulated in most ccRCC tumors (77.6%/80.6%).
|
29169846 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Of the 441-immunostained ccRCC specimens, 91 (20.6%) and 107 (24.3%) showed negative-expression of PBRM1 and BAP1, respectively.
|
29426696 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This results in concurrent one-copy loss of four tumor suppressor genes that are also mutated individually at high frequency in ccRCC (ie, VHL, 80%; PBRM1, 29% to 46%; BAP1, 6% to 19%; and SETD2, 8% to 30%).
|
30372397 |
2018 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Polybromo1 (PBRM1), a subunit of the Polybromo-associated BRG1- or hBRM-associated factors (PBAF) chromatin remodeler, contains six tandem BDs and is frequently mutated in clear cell renal cell carcinoma (ccRCC).
|
28053089 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Of the remaining, 6 had other clear cell renal cell carcinoma-associated gene alterations (PBRM1, SMARCA4, BAP1, SETD2), leaving 11 specimens, including 2 high-grade or sarcomatoid renal cell carcinomas and 2 with prominent fibromuscular stroma (not TCEB1 mutant).
|
28731045 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In 2011, Varela et al. reported that the PBRM1 gene is mutated in approximately 40% of clear cell renal cell carcinoma cases.
|
28921948 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study reports a physiological preclinical ccRCC mouse model that recapitulates somatic mutations in human ccRCC and provides mechanistic and therapeutic insights into PBRM1 mutated subtypes of human ccRCC.
|
28329682 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Similarly, seven of the ten patients that demonstrated discordant PBRM1 expression showed loss of PBRM1 expression during progression to metastatic ccRCC.
|
28327121 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
To investigate the intratumoral heterogeneity of BAP1 and PBRM1 expression at the primary site and metastatic sites and to evaluate whether BAP1 and PBRM1 expression in metastatic sites of clear cell renal cell carcinoma (ccRCC) has prognostic value.
|
28284891 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thus, our studies reveal that BAF180 function in ccRCC is context dependent, and that mutation of PBRM1/BAF180 serves as an alternative strategy for ccRCC tumors to reduce HIF1 tumor-suppressive activity in H1H2 ccRCC tumors.
|
28092369 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
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 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.700 |
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 |