BAP1 is a deubiquitylase that is found associated with multiprotein complexes that regulate key cellular pathways, including the cell cycle, cellular differentiation, cell death, gluconeogenesis and the DNA damage response (DDR). Recent findings indicate that germline BAP1 mutations cause a novel cancer syndrome that is characterized, at least in the affected families that have been studied so far, by the onset at an early age of benign melanocytic skin tumours with mutated BAP1, and later in life by a high incidence of mesothelioma, uveal melanoma, cutaneous melanoma and possibly additional cancers.
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The authors thank the W and L family members for their participation in this study, and F. Baumann, E. Flores, S. Kanodia, A. Napolitano, J. D. Rowley and D. C. Ward for critical reading of this manuscript. They thank T. Wiesner for sharing MBAIT tissue specimens for their review. NCI PO1 CA 1140047 to M.C. supported this work.
M.C. and J.R.T. have a pending patent application on BAP1.
- Autosomal dominant
A genetic disease inherited as a result of having a single copy of the mutated gene, located on one of the 22 non-sex chromosomes.
Six different fibrous minerals, among about 400 present in nature, that were used commercially. Exposure to asbestos, as well as to other mineral fibres, such as erionite, can cause mesothelioma.
- Uveal melanoma
(UVM). The most common primary intraocular malignancy; accounts for about 13% of melanoma deaths.
Individuals who, by seeking medical or scientific attention, allow the detection of a genetic disorder in a family.
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Carbone, M., Yang, H., Pass, H. et al. BAP1 and cancer. Nat Rev Cancer 13, 153–159 (2013). https://doi.org/10.1038/nrc3459
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