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 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 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 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 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 Population-based analysis of BAP1 germline variations in patients with uveal melanoma. 31058963 2019
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 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 Hence, epigenetic inhibitors are being investigated in BAP1 mutant uveal melanoma. 29206651 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Current evidence demonstrates that germline BAP1 mutations predispose families to uveal melanoma, renal cell carcinoma, malignant mesothelioma, cutaneous melanoma, and possibly to a range of other cancers as well. 26096145 2016
CUI: C0220633
Disease: Uveal melanoma
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
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 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 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
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 GeneticVariation disease BEFREE BAP1 mutations are frequently found in UM and are associated with a poor prognosis. 25582751 2015
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 mutations of BRCA1 associated protein-1 (BAP1) gene were recently found in MM as well as in uveal melanoma and kidney cancer among the Caucasian and Japanese people. 26246155 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE While young patients with UM should be screened for germline BAP1 mutations, our results suggest that there is a need to identify other candidate genes which are responsible for UM in young patients. 25687217 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE We report the population-based frequency of germline pathogenic variants of BAP1 in Finnish patients with uveal melanoma who live in a high-risk region for this cancer. 26876698 2016
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 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 GeneticVariation disease BEFREE The most prevalent malignancies among BAP1 mutation carriers were uveal melanoma (n =  60 [28%]), mesothelioma (n = 48 [22%]), cutaneous melanoma (n = 38 [18%]), and renal cell carcinoma (n = 20 [9%]). 28793149 2017
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1. 26683228 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Consistently, BAP1 mutation was correlated with critical clinicopathological features only in uveal melanoma and clear cell renal cell carcinoma. 28618948 2017