|
Uveal melanoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
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 is a life-threatening disease for which data on germline predisposition are essentially limited to mutations in the BAP1 gene.
|
31626034 |
2020 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma.
|
23915344 |
2013 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BAP1 loss-of-function mutations were found in three UMs.
|
25361747 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BAP1 mutations are frequently found in UM and are associated with a poor prognosis.
|
25582751 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
BAP1 gene sequencing from blood samples of patients with uveal melanoma was correlated with clinical characteristics.
|
25974357 |
2015 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous melanoma (CM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), meningioma, cholangiocarcinoma, multiple non-melanoma skin cancers, and <i>BAP1</i>-inactivated nevi.
|
31382694 |
2019 |
|
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 |
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 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 |
GeneticVariation
|
disease |
BEFREE |
All BAP1 mutations identified in blood samples were also present in the matched UM.
|
30477459 |
2018 |
|
Uveal melanoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
|
25687217 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
As our BCCs probably developed independently from the BAP1-TPDS and UMs frequently show loss of nuclear BAP1 staining, genetic analysis is mandatory to diagnose this syndrome.
|
30578689 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both UM and CM have been shown to harbor germline mutation of BAP1.
|
24697775 |
2014 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.
|
24970262 |
2014 |