BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Population-based analysis of BAP1 germline variations in patients with uveal melanoma. 31058963 2019
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 Biomarker disease BEFREE Similarly, BAP1-deficient uveal melanoma cells are preferentially vulnerable to HDAC4 depletion. 31555735 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 AlteredExpression disease BEFREE Prediction of BAP1 Expression in Uveal Melanoma Using Densely-Connected Deep Classification Networks. 31623293 2019
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE All BAP1 mutations identified in blood samples were also present in the matched UM. 30477459 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Hence, epigenetic inhibitors are being investigated in BAP1 mutant uveal melanoma. 29206651 2018
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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