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Murali, R; Wiesner, T; Scolyer, RA.
Tumours associated with BAP1 mutations.
Pathology. 2013; 45(2):116-126 Doi: 10.1097/PAT.0b013e32835d0efb
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Co-authors Med Uni Graz: Wiesner Thomas
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Abstract:: BAP1 (BRCA1-Associated Protein 1) was initially identified as a protein that binds to BRCA1. BAP1 is a tumour suppressor that is believed to mediate its effects through chromatin modulation, transcriptional regulation, and possibly via the ubiquitin-proteasome system and the DNA damage response pathway. Germline mutations of BAP1 confer increased susceptibility for the development of several tumours, including uveal melanoma, epithelioid atypical Spitz tumours, cutaneous melanoma, and mesothelioma. However, the complete tumour spectrum associated with germline BAP1 mutations is not yet known. Somatic BAP1 mutations are seen in cutaneous melanocytic tumours (epithelioid atypical Spitz tumours and melanoma), uveal melanoma, mesothelioma, clear cell renal cell carcinoma, and other tumours. Here, we review the current state of knowledge about the functional roles of BAP1, and summarise data on tumours associated with BAP1 mutations. Awareness of these tumours will help pathologists and clinicians to identify patients with a high likelihood of harbouring germline or somatic BAP1 mutations. We recommend that pathologists consider testing for BAP1 mutations in epithelioid atypical Spitz tumours and uveal melanomas, or when other BAP1-associated tumours occur in individual patients. Tumour tissues may be screened for BAP1 mutations/loss/inactivation by immunohistochemistry (IHC) (demonstrated by loss of nuclear staining in tumour cells). Confirmatory sequencing may be considered in tumours that exhibit BAP1 loss by IHC and in those with equivocal IHC results. If a BAP1 mutation is confirmed in a tumour, the patient's treating physician should be informed of the possibility of a BAP1 germline mutation, so they can consider whether genetic counselling and further testing of the patient and investigation of their family is appropriate. Recognition and evaluation of larger numbers of BAP1-associated tumours will also be necessary to facilitate identification of additional distinct clinico-pathological characteristics or other genotype-phenotype correlations that may have prognostic and management implications.
Find related publications in this database (using NLM MeSH Indexing): Adenocarcinoma - diagnosis Adenocarcinoma - genetics Adenocarcinoma - metabolism; Biomarkers, Tumor - genetics Biomarkers, Tumor - metabolism; Carcinoma, Neuroendocrine - diagnosis Carcinoma, Neuroendocrine - genetics Carcinoma, Neuroendocrine - metabolism; DNA Mutational Analysis -; Gene Deletion -; Genetic Predisposition to Disease -; Humans -; Immunohistochemistry - methods; Lung Neoplasms - diagnosis Lung Neoplasms - genetics Lung Neoplasms - metabolism; Melanoma - diagnosis Melanoma - genetics Melanoma - metabolism; Meningioma - diagnosis Meningioma - genetics Meningioma - metabolism; Mesothelioma - diagnosis Mesothelioma - genetics Mesothelioma - metabolism; Mutation -; Neoplasms - diagnosis Neoplasms - genetics Neoplasms - metabolism; Nevus, Epithelioid and Spindle Cell - diagnosis Nevus, Epithelioid and Spindle Cell - genetics Nevus, Epithelioid and Spindle Cell - metabolism; Paraganglioma - diagnosis Paraganglioma - genetics Paraganglioma - metabolism; Skin Neoplasms - diagnosis Skin Neoplasms - genetics Skin Neoplasms - metabolism; Tumor Suppressor Proteins - genetics; Ubiquitin Thiolesterase - genetics; Uveal Neoplasms - diagnosis Uveal Neoplasms - genetics Uveal Neoplasms - metabolism
Find related publications in this database (Keywords): 3p21 loss syndrome; atypical Spitz tumour; BAP1; diagnosis; familial cancer; germline mutation; inherited tumour susceptibility; melanoma; pathology; skin; uveal melanoma