Gene of the month: <i>BAP1</i>

2016/05/27 by Ami Wang, Anjali Papneja, Martin Hyrcza +3 · 25 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Ocular Oncology and Treatments #Cancer Research and Treatments #Cancer Genomics and Diagnostics

paper · doi:10.1136/jclinpath-2016-203866

Abstract

The BAP1 gene (BRCA1-associated protein 1) is a tumour suppressor gene that encodes a deubiquitinating enzyme (DUB), regulating key cellular pathways, including cell cycle, cellular differentiation, transcription and DNA damage response. Germline BAP1 mutations cause a novel cancer syndrome characterised by early onset of multiple atypical Spitz tumours and increased risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma and various other malignancies. Recognising the clinicopathological features of specific BAP1-deficient tumours is crucial for early screening/tumour detection, with significant impact on patient outcome.

Cited by

• Identification, genetic testing, and management of hereditary melanoma. [europepmc]
• Familial Associations of Colorectal Cancer with Other Cancers. [europepmc]
• Personalized Medicine in Malignant Melanoma: Towards Patient Tailored Treatment. [europepmc]
• EZH2 Expression is increased in BAP1-mutant renal clear cell carcinoma and is related to poor prognosis. [europepmc]
• BAP1 Status Determines the Sensitivity of Malignant Mesothelioma Cells to Gemcitabine Treatment. [europepmc]
• Exploring the hereditary background of renal cancer in Denmark. [europepmc]
• Familial Risks and Mortality in Second Primary Cancers in Melanoma. [europepmc]
• BAP1 functions as a tumor promoter in prostate cancer cells through EMT regulation. [europepmc]
• BAP1: Not just a BRCA1-associated protein. [europepmc]
• Large-scale analysis of BAP1 expression reveals novel associations with clinical and molecular features of malignant pleural mesothelioma. [europepmc]
• BAP1 suppresses prostate cancer progression by deubiquitinating and stabilizing PTEN. [europepmc]
• BAP1 mutant uveal melanoma is stratified by metabolic phenotypes with distinct vulnerability to metabolic inhibitors. [europepmc]
• Roles of the BAP1 Tumor Suppressor in Cell Metabolism. [europepmc]
• Ubiquitin Carboxyl-Terminal Hydrolases and Human Malignancies: The Novel Prognostic and Therapeutic Implications for Head and Neck Cancer. [europepmc]
• Second Primary Cancers After Kidney Cancers, and Kidney Cancers as Second Primary Cancers. [europepmc]
• The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival. [europepmc]
• BAP1 and YY1 regulate expression of death receptors in malignant pleural mesothelioma. [europepmc]
• Pyruvate dehydrogenase inactivation causes glycolytic phenotype in BAP1 mutant uveal melanoma. [europepmc]
• Current Management and Future Perspective in Pleural Mesothelioma. [europepmc]
• BAP1-Related ceRNA (NEAT1/miR-10a-5p/SERPINE1) Promotes Proliferation and Migration of Kidney Cancer Cells. [europepmc]
• Clinical Benefit of Niraparib to TKI/mTORi-Resistance Metastatic ccRCC With BAP1 -Frame Shift Mutation: Case Report and Literature Review. [europepmc]
• Clinical Outcomes Associated With Pembrolizumab Monotherapy Among Adults With Diffuse Malignant Peritoneal Mesothelioma. [europepmc]
• Clinical and genetic characteristics of BAP1 -mutated non-uveal and uveal melanoma. [europepmc]
• An overview of BAP1 biological functions and current therapeutics. [europepmc]
• FOXO3a-BAP1 axis regulates neuronal ferroptosis in early brain injury after subarachnoid hemorrhage. [europepmc]

Related

• Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide
• Deciphering <i>BRCA1</i> -driven tumorigenesis through an iPSC-based breast cancer model
• BAK1 Gene Variation: the doubts remain
• A Simpler Explanation to BAK1 Gene Variation in Aortic and Blood Tissues
• Molecular signatures define <i>BAP1</i>-altered meningioma as a distinct CNS tumor with deregulation of Polycomb repressive complex target genes