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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.800 GeneticVariation disease BEFREE Patients with germline BAP1 mutations exhibited increased frequency of family history of cancer (100% vs 65.9%, P = .06), particularly cutaneous melanoma (62.5% vs 9.9%, P < .001) and ocular melanoma (25.0% vs 1.9%, P = .01). 25974357 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous 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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.800 GeneticVariation disease BEFREE A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. 22889334 2012
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.800 GeneticVariation disease BEFREE There were nonsignificant trends toward different carrier frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53. 27640074 2016
CUI: C0151779
Disease: Cutaneous Melanoma
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
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.800 GeneticVariation disease BEFREE Both UM and CM have been shown to harbor germline mutation of BAP1. 24697775 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.800 GeneticVariation disease BEFREE The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma. 24243779 2014
CUI: C0151779
Disease: Cutaneous Melanoma
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
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.800 GeneticVariation disease BEFREE Germline BAP1 alleles defined as loss-of-function or predicted to be deleterious/damaging are rare in cutaneous melanoma. 28062663 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.800 GeneticVariation disease BEFREE Germline BAP1 mutations cause a novel cancer syndrome characterised by early onset of multiple atypical Spitz tumours and increased risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma and various other malignancies. 27235536 2016
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