Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE In addition, melanoma-specific network analysis followed by Kaplan-Meier analysis along with log-rank tests identified tyrosinase, hedgehog acyltransferase, BRCA1-associated protein 1 and melanocyte inducing transcription factor as potential therapeutic targets for melanoma. 31289481

2019

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker 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

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Mutation gene analysis identified that BRCA1‑associated protein 1 (BAP1) had a higher mutation frequency and survival analysis, and its associated genes in the BAP1‑associated PPI network, including ASXL transcriptional regulator 1 (ASXL1), proteasome 26S subunit, non‑ATPase 3 (PSMD3), proteasome 26S subunit, non ATPase 11 (PSMD11) and ubiquitin C (UBC), were statistically significantly associated with the overall survival of patients with melanoma. 31173190

2019

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Therefore, BAP1 functions as a tumor suppressor and limits tumor progression in melanoma. 30156010

2019

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE BAP1 variants were found only in MPM patients from southern Italy. 31382929

2019

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 AlteredExpression BEFREE To the best of our knowledge, this is the first reported series of cutaneous melanomas with loss of BAP1 expression arising in patients without a family history of cancer. 30801340

2019

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p.E318K; diagnostic yield 4.0%). 30414346

2019

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE The addition of Bap1 loss increased tumor proliferation and cutaneous melanoma size. 29490280

2018

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker 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

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Prior studies have shown that nuclear reactivity for BRCA1-associated protein-1 (BAP1) yields prognostic information for paraffin-embedded uveal melanomas. 29530782

2018

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation 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

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation 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

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Loss of BAP1 function is implicated in the oncogenesis of several types of cancers including uveal, mucosal and some cutaneous melanomas in humans, as well as in mesothelioma. 30060843

2018

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Two of these three probands carrying BAP1 loss-of-function variants also had melanomas with histopathological features suggestive of a germline BAP1 mutation. 28062663

2017

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE BAP1 is a tumor suppressor that has been associated with the outcome of melanomas and other malignancies. 28404968

2017

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation 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

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. 28409567

2017

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE GNAQ, GNA11, EIF1AX, and BAP1 mutations were identified at varying frequencies in ciliary body and ring melanomas. 28700778

2017

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1 (BRCA1), BRCA1-associated protein 1 (BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas. 28121081

2017

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 AlteredExpression BEFREE Loss of BAP1 IHC expression was restricted to melanomas, including all metastatic cases. 26645730

2016

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation 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

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE While many uveal melanomas harbor mutations in the BRCA-Associated Protein 1 (BAP1) gene, the genetics of non-BAP1 associated tumors are not completely understood. 27155448

2016

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Our study suggests that CDKN2A, in addition to BAP1, could be involved in the melanoma and mesothelioma susceptibility, leading to the rare familial cancer syndromes. 27181379

2016

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 GeneticVariation BEFREE Moreover, many tumors harboring BAP1 germline mutations were associated with BAP1 syndrome, including mesothelioma and ocular/cutaneous melanomas, as well as renal, breast, lung, gastric, and basal cell carcinomas. 26719535

2016

Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0025202
Disease: melanoma
melanoma
0.700 Biomarker BEFREE Various features that are unique to specific disorders, such as the appearance of melanocytic BAP1-mutated atypical intradermal tumors in cases of BAP1 melanoma syndrome, should also be recognized early. 26892651

2016