|
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 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The tumor suppressor BAP1 cooperates with BRAFV600E to promote tumor formation in cutaneous melanoma.
|
30156010 |
2019 |
|
Cutaneous 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 |
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 |
|
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma.
|
30477459 |
2018 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Since then, physicians have considered this diagnosis for patients with a characteristic personal or family history of BAP1-associated tumours (mainly uveal and cutaneous melanoma, pleural/peritoneal mesothelioma, renal cell carcinoma and BAP1-deficient melanocytic lesions).
|
29413689 |
2018 |
|
Cutaneous Melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The addition of Bap1 loss increased tumor proliferation and cutaneous melanoma size.
|
29490280 |
2018 |
|
Cutaneous Melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in BAP-1 are associated with a cancer syndrome that involves uveal and cutaneous melanoma, malignant mesothelioma, atypical Spitz tumors, and clear-cell renal cell carcinoma.
|
29981911 |
2018 |
|
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 |