|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
To investigate the presence of specific chromosomal and gene alterations, BAP1 protein expression, and their relationship with distant progression free survival (DPFS), we analyzed tumor samples from 63 UM patients (40 men and 23 women, with a median age of 64 years), who underwent eye enucleation by a single cancer ophthalmologist from December 2005 to June 2016.
|
29689622 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BAP1 mutations were not more common in metastasizing than in nonmetastasizing UM.
|
28444874 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM) is characterized by mutually exclusive activating mutations in GNAQ, GNA11, CYSLTR2, and PLCB4, four genes in a linear pathway to activation of PLCβ in almost all tumors and loss of BAP1 in the aggressive subset.
|
29490280 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM) is the most common primary eye cancer and frequently leads to metastatic death, which is strongly linked to BAP1 mutations.
|
29317634 |
2018 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
BAP1 expression was a favorable predicative factor for OS in clear cell renal cell carcinoma (HR = 0.57, 95% CI: 0.47-0.69), non-small cell lung cancer (HR = 0.55, 95% CI: 0.32-0.96), and uveal melanoma (HR = 0.41, 95% CI: 0.27-0.62), while high expression of BAP1 was associated with poorer outcome in malignant pleural mesothelioma (HR = 2.03, 95% CI: 1.67-2.47).
|
29266978 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A targeted next-generation sequencing approach was applied, covering the mutational hotspot regions of nine genes known to be mutated in conjunctival and uveal melanoma (BRAF, NRAS, KIT, GNAQ, GNA11, CYSLTR2, SF3B1, EIF1AX, and BAP1).
|
28700778 |
2017 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A large basal tumor diameter, ciliary body involvement, nonspindle cell type, extrascleral extension, and negative BAP1 staining may be risk factors for the prediction of the UM prognosis.
|
27911584 |
2017 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A cancer surveillance program for individuals who carry germline BAP1 mutations may help identify tumors such as uveal melanoma, cutaneous melanoma, and renal cell carcinoma at early and treatable stages.
|
28482042 |
2017 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most prevalent malignancies among BAP1 mutation carriers were uveal melanoma (n = 60 [28%]), mesothelioma (n = 48 [22%]), cutaneous melanoma (n = 38 [18%]), and renal cell carcinoma (n = 20 [9%]).
|
28793149 |
2017 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Currently, BAP1 is the only gene known to contribute significant risk for UM.
|
27718540 |
2017 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Consistently, BAP1 mutation was correlated with critical clinicopathological features only in uveal melanoma and clear cell renal cell carcinoma.
|
28618948 |
2017 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of cancers in the pedigree of the proband carrying the S98R variant and in two other pedigrees carrying clear loss-of-function alleles showed the presence of BAP1-associated cancers such as renal cell carcinoma, mesothelioma and meningioma, but not uveal melanoma.
|
28062663 |
2017 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Early changes resulting in gain of chromosome 8q may activate macrophage infiltration, while sequential loss of BAP1 expression seems to drive T cell infiltration in UM.
|
28391358 |
2017 |
|
Uveal melanoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Here we performed thorough BAP1 mutation analysis including sequencing and gene dosage analysis of all BAP1 coding exons as well as methylation analysis of the promoter CpG island in a set of 66 UMs.
|
27015033 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Current evidence demonstrates that germline BAP1 mutations predispose families to uveal melanoma, renal cell carcinoma, malignant mesothelioma, cutaneous melanoma, and possibly to a range of other cancers as well.
|
26096145 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the population-based frequency of germline pathogenic variants of BAP1 in Finnish patients with uveal melanoma who live in a high-risk region for this cancer.
|
26876698 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1.
|
26683228 |
2016 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Considering chromosome 3 and BAP1 loss are robust markers of poor prognosis in uveal melanoma, it will prove interesting to determine whether these genomic alterations are also of prognostic significance in MT-CNS.
|
26744134 |
2016 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Patients with UM and loss of BAP1 expression had a significantly decreased survival (DFS, 69.0 vs. 147.9 months; P < 0.001).
|
26923342 |
2016 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Uveal melanoma (UM) can be classified by gene expression profiling (GEP) into Class 1 (low metastatic risk) and Class 2 (high metastatic risk), the latter being strongly associated with mutational inactivation of the tumor suppressor BAP1.
|
26933176 |
2016 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.
|
26719535 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sixteen of the mutations in BAP1 and 6 of the mutations in EIF1AX were previously unreported in UM.
|
27123562 |
2016 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
BRCA-1 associated protein-1 (BAP1) has been more recently shown to predispose to CMM and uveal melanoma (UMM) in some families; however, its contribution to CMM development in the general population is unreported.
|
25787093 |
2015 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We investigated BAP1 and BRAFV600E expression in 193 sporadic melanocytic lesions (11 dermal nevi, 20 congenital nevi, 40 primary and nondesmoplastic melanomas, 40 desmoplastic melanomas, 23 metastatic melanomas, 17 Spitz nevi, 19 atypical Spitz nevi, 8 atypical Spitz tumors, 14 proliferative nodules arising in congenital nevi, 1 nevus during pregnancy) and 30 melanocytic lesions from 3 patients with family history of uveal melanoma and BAP1 germline mutation.
|
25479927 |
2015 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In addition, we recommend that testing of BAP1 should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma.
|
25803691 |
2015 |