rs1064795638
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Malignant Neoplasms
0.010
GeneticVariation
BEFREE
In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T , which produces a truncated BAP1 protein product and segregates with cancer .
26774355
2016
rs1064795638
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Thyroid Neoplasm
0.010
GeneticVariation
BEFREE
In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer .
26774355
2016
rs1064795638
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplasms
0.010
GeneticVariation
BEFREE
In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer.
26774355
2016
rs1064795638
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Thyroid carcinoma
0.010
GeneticVariation
BEFREE
In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer .
26774355
2016
rs1064795638
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Malignant neoplasm of thyroid
0.010
GeneticVariation
BEFREE
In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer .
26774355
2016
rs1064795638
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Primary malignant neoplasm
0.010
GeneticVariation
BEFREE
In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T , which produces a truncated BAP1 protein product and segregates with cancer .
26774355
2016
rs375129361
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Renal Cell Carcinoma
0.010
GeneticVariation
BEFREE
By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a germline BAP1 mutation c.277A>G (p.Thr93Ala ) as the probable genetic basis of RCC predisposition.
23684012
2013
rs387906849
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Uveal melanoma
0.010
GeneticVariation
BEFREE
Of the 53 UM patients studied, a single patient was identified with a germline BAP1 truncating mutation, c. 799 C→T (p.Q267X ), which segregated in several family members and was associated with UM and other cancers.
21941004
2011
rs776240891
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1 .
28900502
2017
rs878854741
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
G
0.700
GeneticVariation
CLINVAR
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.
28793149
2017
rs1553645164
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
27181379
2016
rs1559586374
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.
26719535
2016
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.
26719535
2016
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
26096145
2016
rs1553644659
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.
25974357
2015
rs1553645720
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation.
26154183
2015
rs1553645809
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
CA
0.700
CausalMutation
CLINVAR
Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.
25974357
2015
rs776240891
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes.
25501392
2015
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Renal Cell Carcinoma
A
0.700
CausalMutation
CLINVAR
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
25687217
2015
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
25687217
2015
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
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
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Carcinoma, Basal Cell
A
0.700
CausalMutation
CLINVAR
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
25687217
2015
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
A
0.700
CausalMutation
CLINVAR
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
25687217
2015
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Uveal melanoma
A
0.700
CausalMutation
CLINVAR
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
25687217
2015
rs869025212
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Malignant mesothelioma
A
0.700
CausalMutation
CLINVAR
Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.
25687217
2015