Overview of BAP1 cancer predisposition syndrome and the relationship to uveal melanoma

The aim of this study was to review the genetics, epidemiology, clinical findings, and management of BRCA1-associated protein-1 (BAP1) cancer predisposition syndrome, particularly focusing on the development of uveal melanoma (UM). This is a review article based on eligible studies identified by sys...

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Bibliographic Details
Published in:Iranian journal of ophthalmology 2018-06, Vol.30 (2), p.102-109
Main Authors: Masoomian, Babak, Shields, Jerry A., Shields, Carol L.
Format: Article
Language:English
Subjects:
BAP1
BAP1 cancer predisposition syndrome
BRCA1-associated protein-1
Breast cancer
Cell cycle
Chromosomes
Deoxyribonucleic acid
DNA
DNA damage
Enzymes
Kidney cancer
Melanoma
Mesothelioma
Mutation
Patients
Prostate
Proteins
Renal cell carcinoma
Skin cancer
Tumors
Uveal melanoma
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Summary:The aim of this study was to review the genetics, epidemiology, clinical findings, and management of BRCA1-associated protein-1 (BAP1) cancer predisposition syndrome, particularly focusing on the development of uveal melanoma (UM). This is a review article based on eligible studies identified by systematically searching PubMed, Web of Science, and reference lists. UM is the most common primary intraocular malignancy. Most UM cases are sporadic, but a small percentage has been documented with familial tendency. Until recently, there was little information regarding the genetics of this malignant tumor, and we have now begun to understand the pathways of development. BAP1 is a scavenger protein that regulates cell cycle, cellular differentiation, and DNA damage response. Patients and families with germline BAP1 mutation are predisposed to familial cancers including UM, mesothelioma, cutaneous melanoma (CM), renal cell carcinoma (RCC), and others. Clinicians should be aware of the implications of germline BAP1 mutation and advise genetic testing and assessment for BAP1 germline mutation in suspected patients and families. The ability of BAP1 gene mutation to cause multiple tumor types and high penetrance in carriers suggests that this gene has an important role for influencing cancer cell growth. With progress in understanding the molecular landscape of UM and the development of treatments targeted to the pathways involving BAP1 and other gene mutations, it is possible to improve the outcome of this malignant cancer.
ISSN:2452-2325
2452-2325
DOI:10.1016/j.joco.2018.02.005