RT Journal Article
SR Electronic
T1 Gene of the month: <em>BAP1</em>
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 750
OP 753
DO 10.1136/jclinpath-2016-203866
VO 69
IS 9
A1 Wang, Ami
A1 Papneja, Anjali
A1 Hyrcza, Martin
A1 Al-Habeeb, Ayman
A1 Ghazarian, Danny
YR 2016
UL http://jcp.bmj.com/content/69/9/750.abstract
AB 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.