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 |
Germline mutations in BRCA1 associated protein 1 (BAP1) are associated with unique disease profiles in mesothelioma, atypical spitz nevi, and uveal melanoma, but the patient characteristics of an unselected population of BAP1 carriers identified by an ascertainment prevalence study are unknown.
|
31323388 |
2019 |
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We report that the NFkB pathway is associated with inflammation and HLA Class I expression in UM, and is upregulated when BAP1 expression is lost.
|
31382450 |
2019 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
|
31058963 |
2019 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In total, eight patients (4.7%) had pathogenic alterations in BAP1 with the highest frequencies of in patients with a personal/family history of ≥2 BAP1-related cancers 6/16 (38%), age of onset <35 years 4/21 (19%) and familial UM 6/34 (18%).
|
30883995 |
2019 |
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-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 |
Biomarker
|
disease |
BEFREE |
To detect how BRCA-associated protein 1 (BAP1) regulates cell migration in uveal melanoma (UM) cells.
|
31741854 |
2019 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Then, we tested if these genes are also highly correlated with BAP1 in UM and colon cancer.
|
30716094 |
2019 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Looking for the BAP1 mutation in uveal melanoma is essential because of the associated metastatic risk.
|
31418658 |
2019 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Unilateral multifocal uveal melanoma in the absence of ocular melanocytosis appears to occur preferentially in tumors with the class 2 gene expression profile and a BRCA1-associated protein 1 gene (BAP1) mutation.
|
31580399 |
2019 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Similarly, BAP1-deficient uveal melanoma cells are preferentially vulnerable to HDAC4 depletion.
|
31555735 |
2019 |
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Prediction of BAP1 Expression in Uveal Melanoma Using Densely-Connected Deep Classification Networks.
|
31623293 |
2019 |
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 |
Concluding, vascular density of UM relates to its genetic profile: Monosomy 3 and BAP1-loss are associated with an increased MVD, while an early event (gain of 8q) is not independently related to MVD, but may initiate a preparation phase towards development of vessels.
|
31337000 |
2019 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma.
|
31635116 |
2019 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thirty-two enucleated eyes with UM were stained immunohistochemically (BAP-1, laminin, CD31, and CD68) and with PAS without hematoxylin counterstain.
|
31588174 |
2019 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our data support the role of BAP1 immunohistochemical staining of primary uveal melanoma to evaluate metastatic risk.
|
28823399 |
2018 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have used the "Calling Card System" of transposase-directed transposon insertion mapping to identify the genomic targets of BAP1 in uveal melanoma (UM).
|
30400891 |
2018 |
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 |
GeneticVariation
|
disease |
BEFREE |
Hence, epigenetic inhibitors are being investigated in BAP1 mutant uveal melanoma.
|
29206651 |
2018 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
When adequate material is obtained, immunocytology using BAP1 is a potentially informative tool for prognostication of uveal melanoma.
|
29530782 |
2018 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors.
|
30517737 |
2018 |
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, the BAP1 mutation and its involvement in cancer survival have been reported in a range of tumor types, including uveal melanoma, mesothelioma, renal cancers, and biliary tract cancers.
|
30395583 |
2018 |
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Germline pathogenic variants in BRCA1-associated protein-1 (BAP1), a nuclear ubiquitin carboxy-terminal hydrolase with evidence suggestive of independent tumor suppressor function, predispose affected families to uveal melanoma, cutaneous melanoma, renal cell carcinoma, malignant mesothelioma, and possibly a range of other tumors and malignancies as part of the BAP1 tumor predisposition syndrome, a recently recognized hereditary cancer syndrome.
|
29061454 |
2018 |