| Literature DB >> 27235536 |
Ami Wang1, Anjali Papneja2, Martin Hyrcza1, Ayman Al-Habeeb1, Danny Ghazarian1.
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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/Entities:
Keywords: CANCER GENETICS; MELANOMA; RENAL CANCER
Mesh:
Substances:
Year: 2016 PMID: 27235536 DOI: 10.1136/jclinpath-2016-203866
Source DB: PubMed Journal: J Clin Pathol ISSN: 0021-9746 Impact factor: 3.411