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Gene of the month: BAP1
  1. Ami Wang1,
  2. Anjali Papneja2,
  3. Martin Hyrcza1,
  4. Ayman Al-Habeeb1,
  5. Danny Ghazarian1
  1. 1Department of Laboratory Medicine and Pathobiology, University Health Network, University of Toronto, Toronto, Ontario, Canada
  2. 2Department of Dermatology, University Health Network, University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to Dr Danny Ghazarian, Department of Pathology, University Health Network, 200 Elizabeth Street, Rm 11E-444, Toronto, Ontario, Canada M5G 2C4; dr.danny.ghazarian{at}


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.


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