TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
CTD_human |
|
|
|
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization.
|
18757409 |
2008 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Germline BAP1 mutations predispose to malignant mesothelioma.
|
21874000 |
2011 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Germline mutations in BAP1 predispose to melanocytic tumors.
|
21874003 |
2011 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Germline BAP1 mutations predispose to malignant mesothelioma.
|
21874000 |
2011 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline mutations in BAP1 predispose to melanocytic tumors.
|
21874003 |
2011 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.
|
21941004 |
2011 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Germline BAP1 mutations predispose to malignant mesothelioma.
|
21874000 |
2011 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline BAP1 mutations and tumor susceptibility.
|
21956388 |
2011 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.
|
22545102 |
2012 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Loss of the tumor suppressor BAP1 causes myeloid transformation.
|
22878500 |
2012 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
BEFREE |
We then screened for germline BAP1 deleterious mutations in familial aggregations of cancers within the spectrum of the recently described BAP1-associated tumor predisposition syndrome, including uveal melanoma, malignant pleural mesothelioma, and cutaneous melanoma.
|
23684012 |
2013 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
Germline BAP1 mutations predispose to renal cell carcinomas.
|
23684012 |
2013 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Germline BAP1 mutations predispose to renal cell carcinomas.
|
23684012 |
2013 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.
|
24243779 |
2014 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.
|
25974357 |
2015 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Patients with heterozygous germline mutations in BRCA1-associated protein 1 (BAP1), a tumor suppressor gene, develop a tumor predisposition syndrome (OMIM 614327) with increased risk of uveal and cutaneous melanomas, cutaneous atypical and epithelioid melanocytic lesions, lung adenocarcinoma, clear cell renal cell carcinoma, and other tumors.
|
25972334 |
2015 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.
|
26683624 |
2015 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Several kindreds having germline BAP1 mutations with a propensity for uveal and cutaneous melanomas and other internal malignancies have been described in an autosomal dominant tumor predisposition syndrome.
|
26154183 |
2015 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
|
25687217 |
2015 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation.
|
26154183 |
2015 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
BEFREE |
Recently, renal cell carcinoma has been confirmed as part of the clinical phenotype in individuals from families with BAP1-associated tumor predisposition syndrome and MiTF-associated cancer syndrome.
|
27899189 |
2016 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.
|
26719535 |
2016 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the tumor suppressor gene, BRCA-1 associated protein (BAP1), underlie a tumor predisposition syndrome characterized by increased risk for numerous cancers including uveal melanoma, melanocytic tumors and mesothelioma, among others.
|
26774355 |
2016 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Bap1 Is a Bona Fide Tumor Suppressor: Genetic Evidence from Mouse Models Carrying Heterozygous Germline Bap1 Mutations.
|
26896281 |
2016 |