|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
In addition to CTNNB1-activating mutations, we found inactivating mutations of epigenetic regulators (KDM6A, TET1, BAP1) associated with metastatic disease.
|
30306561 |
2019 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The presence of identical BAP1 mutations in multiple tumors in the same eye in the absence of a germline BAP1 mutation suggests intraocular metastasis rather than independent primary tumors.
|
31580399 |
2019 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Uveal melanoma (UM), a rare cancer of the eye, is characterized by initiating mutations in the genes G-protein subunit alpha Q (<i>GNAQ</i>), G-protein subunit alpha 11 (<i>GNA11</i>), cysteinyl leukotriene receptor 2 (<i>CYSLTR2</i>), and phospholipase C beta 4 (<i>PLCB4</i>) and by metastasis-promoting mutations in the genes splicing factor 3B1 (<i>SF3B1</i>), serine and arginine rich splicing factor 2 (SRSF2), and BRCA1-associated protein 1 (<i>BAP1</i>).
|
31671564 |
2019 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Loss of BAP1 expression in metastatic tumor tissue is an event of poor prognosis in patients with metastatic clear cell renal cell carcinoma.
|
30446457 |
2019 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
We assessed BAP1 expression by immunohistochemistry (IHC) in a cohort of 56 PCC/PGL patients (and corresponding metastases, when available).
|
31734934 |
2019 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Manual assessment of the level of expression of the tumor suppressor BRCA1-associated protein 1 (BAP1) in tumor cell nuclei can identify patients with a high risk of developing metastases, but may suffer from poor reproducibility.
|
31623293 |
2019 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
We examined these patterns with digital image analysis and transmission electron microscopy, and correlated them with BAP-1 expression, gene expression class, macrophage infiltration, and metastatic disease in full tumor cross-sections and intratumor regions.
|
31588174 |
2019 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Clinically, low BAP1 expression was positively correlated with aggressive tumor characteristics, such as larger tumor size, presence of lymphatic metastasis, and advanced tumor node metastasis stage.
|
30305612 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
In this study, we compare the risk of metastasis in UM that carry germline versus somatic BAP1 mutations and mutation-negative tumors.
|
30477459 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
BAP1 mutations are associated with disease progression especially after second line therapy and the incidence of organ metastasis.
|
30553477 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
This technique has generated a new and expanded list of BAP1 targets in UM that provides important insight into metastasis pathways and identifies novel potential therapeutic targets.
|
30400891 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Tumor size, histologic features, nuclear and cytoplasmic BAP1 immunoreactivity grade, and patient outcome, including development of metastasis.
|
28823399 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Loss of chromosome 3 and inactivating mutations in BAP1, which is located on chromosome 3, are strongly associated with 'high-risk' tumors that metastasize early.
|
29327717 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Regarding time to clinically detected metastases, the first 2 peaks appear to be associated with BAP1-mutated tumors and the late peak to SF3B1-mutated tumors.
|
30073324 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
We analyzed BAP1 and PBRM1 loss of protein expression in patient-matched primary and metastatic tumors from 97 patients.
|
28327121 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Median OS from the first occurrence of metastasis in patients with BAP1-positive and BAP1-negative metastatic sites were 97 months (95% CI: 58-136) and 51 months (95% CI: 13-82), respectively (P = 0.0077).
|
28284891 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
However, few studies have investigated the rate of BAP1 loss in tumors that commonly metastasize to the pleura.
|
27984124 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Loss of chromosome 3, bi-allelic loss of BAP1 expression, and gain in chromosome 8q have been associated with metastasis formation and death, while loss of chromosome 3 has been associated with the influx of macrophages and T cells.
|
28391358 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
While BAP1 mutations and loss of chromosome 3 have adverse prognostic meaning in uveal melanoma, genetic alterations associated with metastasis have not been investigated in primary meningeal melanocytic tumors.
|
27974237 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
It thus appears that loss of nuclear BAP1 expression is an independent prognostic factor of poor overall survival and associated with distant metastasis in OMM.
|
28404968 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
BAP1 staining was negative in 34% (53/156) of all tumors and 53% (19/36) of the cases with melanoma-related metastasis.
|
27911584 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Chi-square test confirmed an association between angiotropism and metastasis and death but none with BAP1 mutation and monosomy 3.
|
28240745 |
2017 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
The association between BAP1 expression and overall survival was assessed using Cox proportion hazards models adjusting for Fuhrman grade, pathologic stage, and the presence of pathologic metastases for the overall cohort and stratified by race.
|
26854086 |
2016 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Moreover, similar to patients with diploid UM, BAP1 mutation is the most significant prognostic predictor of metastasis in patients with polyploid UM.
|
27116551 |
2016 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Kaplan-Meier and Cox regression models were used to evaluate association of PBRM1 and BAP1 expression with the risk of death from renal cell carcinoma and the risk of metastasis after adjustment for age and the Mayo Clinic SSIGN (stage, size, grade and necrosis) score.
|
26300218 |
2016 |