title: Gene of the month: BAP1.
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.
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Ami
authors.initials: A
authors.lastname: Wang
authors.affiliation: Department of Dermatology, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Anjali
authors.initials: A
authors.lastname: Papneja
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Martin
authors.initials: M
authors.lastname: Hyrcza
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Ayman
authors.initials: A
authors.lastname: Al-Habeeb
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Danny
authors.initials: D
authors.lastname: Ghazarian
mesh_terms: D018095:Germ-Line Mutation; D006801:Humans; D008545:Melanoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008654:Mesothelioma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018332:Nevus, Epithelioid and Spindle Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism; D043222:Ubiquitin Thiolesterase / Q000235:genetics* / Q000378:metabolism; D000096142:Cutaneous Malignant Melanoma
chemical_list: C400134:BAP1 protein, human; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase
keywords: CANCER GENETICS; MELANOMA; RENAL CANCER