Gene: BAP1

Alternate names for this Gene: HUCEP-13|UCHL2|hucep-6

Gene Summary: This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: BRCA1 associated protein 1

Type of Gene: protein-coding

rs869025212 in BAP1 gene and Carcinoma, Basal Cell PMID 25687217 2015 Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

rs869025212 in BAP1 gene and Malignant mesothelioma PMID 25687217 2015 Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

rs1553645164 in BAP1 gene and Neoplastic Syndromes, Hereditary PMID 22545102 2012 Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.

PMID 27181379 2016 CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

PMID 28900502 2017 A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1.

PMID 25501392 2015 Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes.

PMID 26683624 2015 Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.

PMID 21874000 2011 Germline BAP1 mutations predispose to malignant mesothelioma.

PMID 26096145 2016 Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.

PMID 26719535 2016 Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.

PMID 25687217 2015 Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

PMID 28793149 2017 Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

rs869025212 in BAP1 gene and Renal Cell Carcinoma PMID 25687217 2015 Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

rs112194987 in BAP1 gene and TUMOR PREDISPOSITION SYNDROME PMID 23684012 2013 Germline BAP1 mutations predispose to renal cell carcinomas.

PMID 21874000 2011 Germline BAP1 mutations predispose to malignant mesothelioma.

PMID 22545102 2012 Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.

PMID 25974357 2015 Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.

PMID 26154183 2015 Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation.

PMID 26719535 2016 Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.

PMID 18757409 2008 BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization.

PMID 24243779 2014 Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.

PMID 25687217 2015 Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

PMID 26683624 2015 Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.

rs869025212 in BAP1 gene and Uveal melanoma PMID 25687217 2015 Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.