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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE As an application of this resource, we discovered RCC GCN edges and modules that were associated with genetic lesions in known RCC driver genes, including VHL, a common initiating clear cell RCC (ccRCC) genetic lesion, and PBRM1 and BAP1 which are early genetic lesions in the Braided Cancer River Model (BCRM). 30814637 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease 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
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease BEFREE FH and likely BAP1 RCC are associated with more aggressive disease. 31326218 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Furthermore, in three families we found three different variants in BAP1, one of which was a novel non-segregating missense variant (c.1502G>A, p.Ser501Asn) in a family with two brothers affected with RCC. 31034483 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Though screening and management guidelines for some inherited RCC syndromes (e.g. von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, hereditary leiomyomatosis) are well defined for rare cause of inherited RCC (e.g. germline BAP1 mutations), there is limited information regarding the lifetime RCC risks and the most appropriate screening modalities. 29680948 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease 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
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Renal cell carcinomas (RCCs) are a diverse set of malignancies that have recently been shown to harbour mutations in a number of chromatin modifier genes - including PBRM1, SETD2, BAP1, KDM5C, KDM6A, and MLL2 - through high-throughput sequencing efforts. 30030490 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Of the 254 patients (median age [range], 56 [13-79] years; 179 [70.5%] male; 211 [83.1%] non-Hispanic white), germline mutations were identified in 41 (16.1%); 14 (5.5%) had mutations in syndromic RCC-associated genes (7 in FH, 3 in BAP1, and 1 each in VHL, MET, SDHA, and SDHB). 29978187 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Our study indicate that common germline genetic variants of <i>BAP1</i> play a role in mediating the risk of developing renal cell carcinoma and lung cancer. 29088836 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE While in clear cell renal cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and BAP1-mutant clear cell renal cell carcinomas also showed significantly worse prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p = 0.001). 28618948 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease BEFREE BAP1 is a gene situated on chromosome 3p in a region that can be modified in renal cell carcinomas (RCCs). 28488170 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Analysis of cancers in the pedigree of the proband carrying the S98R variant and in two other pedigrees carrying clear loss-of-function alleles showed the presence of BAP1-associated cancers such as renal cell carcinoma, mesothelioma and meningioma, but not uveal melanoma. 28062663 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Germline mutations in BRCA1 predispose individuals to breast, ovarian, fallopian tube, peritoneal, pancreatic and prostate cancers, whereas BAP1 mutations combined with certain types of DNA damage provoke malignant mesothelioma, uveal and cutaneous melanoma, lung adenocarcinoma and renal cell carcinoma. 26517537 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE None of the RCCs had biallelic deletion of BAP1, but five (11.1%) showed a biallelic mutation (four with a sequence-level mutation with monoallelic loss and one with a biallelic sequence-level mutation); these cells were negative for nuclear BAP1 staining. 26891804 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease BEFREE Compared to patients with PBRM1+ BAP1+ tumors those with PBRM1- BAP1+ lesions were more likely to die of renal cell carcinoma (HR 1.39, p = 0.035), followed by those with PBRM1+ BAP1- and PBRM1- BAP1- tumors (HR 3.25 and 5.2, respectively, each p <0.001). 26300218 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease BEFREE Stabilization of MCRS1 by BAP1 prevents chromosome instability in renal cell carcinoma. 26300492 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Loss of function germline mutations of BAP1 have been associated with an enhanced risk of uveal and cutaneous melanomas, mesothelioma, clear cell renal cancer and atypical cutaneous melanocytic proliferations. 25080371 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 CausalMutation disease CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 Biomarker disease BEFREE PBRM1 and BAP1 as novel targets for renal cell carcinoma. 23867514 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE Six2-Cre;Vhl(F/F);Bap1(F/+) mice developed ccRCC, but Six2-Cre;Vhl(F/F) mice did not. 25359211 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.500 GeneticVariation disease BEFREE However, mutation exclusivity may indicate negative genetic interactions, as proposed herein for PBRM1 and BAP1, and mutations in these genes define RCC with different pathologic features, gene expression profiles, and outcomes. 23832661 2013