TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
As BIMTs can serve as an early marker of the BAP1 hereditary tumor predisposition syndrome, we believe a need exists for a more comprehensive combined clinical and pathological approach for BIMT identification.
|
31206729 |
2019 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
BEFREE |
As our BCCs probably developed independently from the BAP1-TPDS and UMs frequently show loss of nuclear BAP1 staining, genetic analysis is mandatory to diagnose this syndrome.
|
30578689 |
2019 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the oncosuppressor gene breast cancer 1-associated protein 1 (BAP1) were recently related to an autosomal-dominant tumor predisposition syndrome (BAP1-TPDS), characterized by uveal melanoma, malignant mesothelioma (MM), cutaneous melanoma, and other malignancies.
|
28551647 |
2017 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
It appears that nearly all patients with germline BAP1 mutations develop malignancies by age 55, most frequently uveal melanoma, cutaneous melanoma, pleural or peritoneal malignant mesothelioma, or renal cell carcinoma, although other cancers have also been associated with BAP1 TPDS.
|
28482042 |
2017 |
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 |
TUMOR PREDISPOSITION SYNDROME
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Minimal asbestos exposure in germline BAP1 heterozygous mice is associated with deregulated inflammatory response and increased risk of mesothelioma.
|
26119930 |
2016 |
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 |
CausalMutation
|
disease |
CLINVAR |
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.
|
24243779 |
2014 |
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 |
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 |
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 |