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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Clinicopathologic characteristics and oncologic outcomes [recurrencefree (RFS), cancer-specific (CSS), and overall survival (OS)] were stratified by BAP1 status. 30759271 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Herein, we suggest that although BAP1 is conceptually a driver gene in UM, it might contribute through its interaction partners and its regulatory miRNA network to various aspects of cancer. 31635116 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE BAP1 inactivation in cancer cells leads to SLC7A11 de-repression, ferroptosis resistance, and tumor development. 30907299 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Family cancer history and functional assays are indispensable when establishing the pathogenicity of BAP1 variants. 31058963 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE We also discovered that cancer cells deficient in BRCA1 or its obligate partner BRCA1-Associated Protein-1 (BAP1) routinely repress miR223-3p to permit repair of stressed replication forks via aNHEJ. 31395736 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Analysis of datasets in The Cancer Genome Atlas revealed that lower <i>BAP1</i> expression is correlated with longer overall survival of ccRCC patients. 30992312 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE BAP1 Missense Mutations in Cancer: Friend or Foe? 31735283 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer. 30883995 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE To further investigate the role of BAP1, we used our recently developed cancer driver gene prioritization algorithm, HIT'nDRIVE, and observed that PeM with BAP1 haploinsufficiency form a distinct molecular subtype characterized by distinct gene expression patterns of chromatin remodeling, DNA repair pathways, and immune checkpoint receptor activation. 30777124 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Based on our index patient with BAP1-TPDS with bilateral UM (choroid OD, oculus dexter; iris OS, oculus sinister), several BCCs and thyroid cancer as well as a family history for cancer, this paper analyzes hints and pitfalls to diagnose this syndrome clinically and histologically. 30578689 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE The identification of germline aberrations in TP53 or BAP1 is important to identify patients with Li-Fraumeni syndrome or BAP1 cancer syndrome, which is also crucial for proper genetic counseling. 29769598 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE BAP1 may be a potential therapeutic target in HNSCC.<i>Clin Cancer Res; 24(3); 600-7.©2017 AACR</i>. 29113987 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE New familial types of RCC are continuously discovered, vis-à-vis recent characterization of BAP1 associated RCC and MITF associated cancer syndrome. 30116909 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Small-molecule approaches to reactivate latent wild-type UCH activity of these mutants might be therapeutically viable.<b>Significance:</b> Combined computational and biochemical approaches demonstrate that the BAP1-ASXL2 interaction is direct and high affinity and that many <i>BAP1</i> mutations act allosterically to inhibit BAP1-ASXL2 binding.<i>Cancer Res; 78(5); 1200-13.©2017 AACR</i>. 29284740 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE PBRM1-/BAP1-group presented a higher risk of cancer specific death (hazard ratio = 2.722, P = 0.007) and disease recurrence (hazard ratio = 2.467, P = 0.004) in multivariate analysis. 29426696 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Here, integrated transcriptomic, epigenomic and cancer genomic analyses link BAP1 to metabolism-related biological processes, and identify cystine transporter SLC7A11 as a key BAP1 target gene in human cancers. 30202049 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE The pooled effects were calculated to investigate the association of BAP1 expression with cancer prognosis and clinicopathological features. 29266978 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Cancer-associated mutations in the sequence encoding the MLL3 PHD repeats disrupt the interaction between MLL3 and BAP1 and correlate with poor patient survival. 29785026 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE In conclusion, germline null mutations in BAP1 have a significantly higher frequency in cancer patients than the general population. 29761599 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE A combination of MTAP and BAP1 IHC in cell blocks from pleural effusions appears to be a reliable and useful method for differentiating MPM cells from RMC and can be used in the routine diagnosis of MPM.Cancer Cytopathol 2018;126:54-63.© 2017 American Cancer Society. 29053210 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Among the remaining 36 patients with no BAP1 mutation, median age at diagnosis was 45 years, median survival was 9 years, and 12 had deleterious mutations of additional genes linked to cancer. 30376426 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Wiesner nevi may be a cutaneous hallmark of the BRCA1-associated protein 1-associated cancer susceptibility syndrome, and to our knowledge, this is the first report of such a lesion presenting anywhere on the ocular adnexa. 28700401 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Pedigrees with BAP1 mutations are at greater risk of various malignancies. 29974497 2018