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BAP1 mutations in mesothelioma: advances and controversies

  • Pleural Diseases and Mesothelioma (G Lee, Section Editor)
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Abstract

Malignant mesothelioma (MM) is a fatal cancer of the pleural and peritoneal cavities caused predominantly by exposure to asbestos. Cohort studies suggest a genetic component to MM susceptibility. BAP1 is a tumour suppressor gene located at 3p21 and is one of the most commonly somatically lost or mutated genes in MM, occurring in approximately 40–60 % of tumours. Germline mutations in BAP1 appear to increase susceptibility to asbestos-induced MM. However, the frequency of germline BAP1 mutation is rare, not being observed in over 300 sporadic MM cases. Germline BAP1 mutation is characteristic of a heritable cancer predisposing syndrome with affected individuals developing malignancies such as MM, uveal and cutaneous melanoma at relatively high frequency. Here, we review the current research into BAP1 mutations in MM.

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Acknowledgments

The authors received support from the National Health and Medical Research Council, the Insurance Commission of Western Australia, the Divert Foundation and the Housing Industry of Australia Charitable Foundation.

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  1. National Centre for Asbestos Related Diseases, School of Medicine and Pharmacology, University of Western Australia, Nedlands, Western Australia, 6009, Australia

    Sophie Sneddon & Jenette Creaney

  2. Australian Mesothelioma Tumour Bank, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia

    Jenette Creaney

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Sneddon, S., Creaney, J. BAP1 mutations in mesothelioma: advances and controversies. Curr Pulmonol Rep 5, 13–19 (2016). https://doi.org/10.1007/s13665-016-0132-1

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