Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
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 |
Renal Cell Carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
|
25687217 |
2015 |
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 |
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 |
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 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
FH and likely BAP1 RCC are associated with more aggressive disease.
|
31326218 |
2019 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
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 |
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 |
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 |
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 |
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 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
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 |
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 |
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 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
Notably, mutations in BAP1 and PBRM1 anticorrelate in tumors (P = 3 × 10(-5)), [corrected] and combined loss of BAP1 and PBRM1 in a few RCCs was associated with rhabdoid features (q = 0.0007).
|
22683710 |
2012 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Notably, mutations in BAP1 and PBRM1 anticorrelate in tumors (P = 3 × 10(-5)), [corrected] and combined loss of BAP1 and PBRM1 in a few RCCs was associated with rhabdoid features (q = 0.0007).
|
22683710 |
2012 |
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 |
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 |
Renal Cell Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
PBRM1 and BAP1 as novel targets for renal cell carcinoma.
|
23867514 |
2014 |
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 |