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
rs1060503726
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
rs1060503727
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
G
0.700
CausalMutation
CLINVAR
rs1060503731
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
T
0.700
CausalMutation
CLINVAR
rs1060503732
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
G
0.700
GeneticVariation
CLINVAR
rs1060503735
BAP1;PHF7
TUMOR PREDISPOSITION SYNDROME
G
0.700
CausalMutation
CLINVAR
Germline BAP1 mutations predispose to malignant mesothelioma.
21874000
2011
rs1060503735
BAP1;PHF7
TUMOR PREDISPOSITION SYNDROME
G
0.700
CausalMutation
CLINVAR
Germline BAP1 mutations predispose to renal cell carcinomas.
23684012
2013
rs1060503735
BAP1;PHF7
Neoplastic Syndromes, Hereditary
G
0.700
CausalMutation
CLINVAR
rs1060503743
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
C
0.700
CausalMutation
CLINVAR
rs1060503744
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
rs1060503750
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
Neoplastic Syndromes, Hereditary
T
0.700
GeneticVariation
CLINVAR
rs1060503750
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
GeneticVariation
CLINVAR
rs1064795638
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
rs112194987
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
GeneticVariation
CLINVAR
Germline BAP1 mutations predispose to renal cell carcinomas.
23684012
2013
rs112194987
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
GeneticVariation
CLINVAR
Germline BAP1 mutations predispose to malignant mesothelioma.
21874000
2011
rs1253151209
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
A
0.700
CausalMutation
CLINVAR
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.
22545102
2012
rs1351986946
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
C
0.700
CausalMutation
CLINVAR
rs143901408
×
Entrez Id:
8314
Gene Symbol:
BAP1
BAP1
TUMOR PREDISPOSITION SYNDROME
C
0.700
CausalMutation
CLINVAR