BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Uveal melanoma ×
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 CausalMutation disease CGI
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease HPO
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation disease ORPHANET These findings implicate loss of BAP1 in uveal melanoma metastasis and suggest that the BAP1 pathway may be a valuable therapeutic target. 21051595 2010
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease BEFREE These results identify a BAP1-related cancer syndrome that is characterized by mesothelioma and uveal melanoma. 21874000 2011
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease CTD_human These results identify a BAP1-related cancer syndrome that is characterized by mesothelioma and uveal melanoma. 21874000 2011
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GermlineCausalMutation disease ORPHANET The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes. 21941004 2011
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease BEFREE The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes. 21941004 2011
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease BEFREE The purpose of this study was to identify therapeutic agents that reverse the phenotypic effects of BAP1 loss in UM. 22038994 2012
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE De-ubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with increased risk of mesothelioma and uveal melanoma. 22878500 2012
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Somatic BAP1 mutations are seen in cutaneous melanocytic tumours (epithelioid atypical Spitz tumours and melanoma), uveal melanoma, mesothelioma, clear cell renal cell carcinoma, and other tumours. 23277170 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Screening of BAP1 germline mutations in families predisposed for UM may be used to identify individuals at increased risk of disease. 23341325 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease BEFREE BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma. 23915344 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Whole-exome sequencing identified a BAP1 splice mutation located at c.581-2A>G, which leads to a premature truncation of BAP1 in an individual with uveal melanoma. 23977234 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE However, BAP1 germline mutations have been identified in rare hereditary tumour syndromes, including cases with UM. 24187051 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE The results of this study confirm the association between germline BAP1 mutation and predisposition to UM, mesothelioma, CM and RCC. 24243779 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease BEFREE Mutations in the tumor suppressor BAP1 enhance the metastatic potential of uveal melanoma and predispose to cutaneous/ocular melanoma, atypical melanocytic tumors, and other internal malignancies (COMMON syndrome). 24258989 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease BEFREE Furthermore, our analysis indicates that loss of BAP1 may be particularly involved in the progression of uveal melanoma to an aggressive, metastatic phenotype. 24633195 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Both UM and CM have been shown to harbor germline mutation of BAP1. 24697775 2014
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease BEFREE Loss of BAP1 expression associated well with all of the methods currently used for prognostication and was itself predictive of death due to metastasis in uveal melanoma after enucleation, thereby emphasising the importance of further research on the role of BAP1 in uveal melanoma. 25147369 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 Biomarker disease CTD_human Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. 25231345 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE BAP1 loss-of-function mutations were found in three UMs. 25361747 2015
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE BAP1 mutations are frequently found in UM and are associated with a poor prognosis. 25582751 2015