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Table of Contents
Definition / general | Diagrams / tables | Molecular / cytogenetics description | Clinical features | Microscopic (histologic) description | Mechanisms of resistanceCite this page: BAP1. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/molecularpathBAP1.html. Accessed July 12th, 2017.
Definition / general
- BAP1: BRCA1 Associated Protein 1, on chromosome 3p21
- Involved in cell cycle regulation, cellular differentiation, cell death, DNA damage response (Nat Rev Cancer 2013;13:153)
- BAP1 is a ubiquitin carboxy-terminal hydrolase (deubiquitylase)
Diagrams / tables
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BAP1 interactions
Molecular / cytogenetics description
- Many different types of mutations (deletions, point mutations, etc.) can lead to inactivation of BAP1 function, which is problematic for detection using molecular techniques (Pathology 2013;45:651)
- Development of a molecular assay is difficult and laborious, due to numerous types of inactivating mutations found in BAP1
- Currently, an immunohistochemical stain is the choice for detection of BAP1 mutations with subsequent inactivation (Pathology 2013;45:651)
Clinical features
- BAP1 has been associated with a cancer syndrome involving a predisposition to benign melanocytic nevi, mesothelioma, uveal melanoma and cutaneous melanoma (Nat Rev Cancer 2013;13:153)
- Many BAP1 mutations have a concomitant BRAF mutation
- One study found 85% of metastasizing uveal melanomas contained a BAP1 mutation (Science 2010;330:1410)
- Lack of BAP1 expression has been associated with aggressive disease and worse survival (Pathology 2013;45:651)
- Histone deacetylase inhibitors may be effective in uveal melanoma cell lines with a BAP1 mutation (Clin Cancer Res 2012;18:408)
Microscopic (histologic) description
- Benign melanocytic nevi are often spitzoid or epitheliod
- These melanocytic tumors may have overlapping features with melanoma
- Spitzoid tumors often lack epidermal hyperplasia, Kamino bodies, clefting
- Many lesions are highly cellular, pleomorphic and can contain molecular aberrations occasionally identified in melanoma (Nat Genet 2011;43:1018)
Mechanisms of resistance
- None evaluated
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