Puzzling Results from BAP1 Germline Mutations Analysis in a Group of Asbestos-Exposed Patients in a High-risk Area of Northeast Italy

Rizzardi, Clara; Athanasakis, Emmanouil; Cammisuli, Francesca; Monego, Simeone Dal; Spelorzi, Yeraldin Chiquinquira Castillo De; Costantinides, Fulvia; Giudici, Fabiola; Pinamonti, Maurizio; Canzonieri, Vincenzo; Melato, Mauro; Pascolo, Lorella

doi:10.21873/anticanres.11663

Cited by 1 publication

(1 citation statement)

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“…Furthermore, frequent germline mutations in other genes associated with DNA repair have been identified in asbestos-exposed individuals who developed MPM, suggesting theses pathways to be associated with MPM predisposition 75 . Interestingly common germline BAP1 variants appear to mediate the risk of developing renal cell carcinoma and lung cancer 76 , and possibly also MPM 77 . When mesothelioma develops in carriers of germline BAP1 mutations, these malignancies have a much better prognosis, and survival of 5 or more years is commonly seen 78 .…”

Section: Molecular Advancesmentioning

confidence: 99%

Progress in the Management of Malignant Pleural Mesothelioma in 2017

McCambridge

Napolitano

Mansfield

et al. 2018

Journal of Thoracic Oncology

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Malignant pleural mesothelioma (MPM) is an uncommon, almost universally fatal, asbestos-induced malignancy. New and effective strategies for diagnosis, prognostication, and treatment are urgently needed. Herein we review the advances in MPM achieved in 2017. Whereas recent epidemiological data demonstrated that the incidence of MPM-related death continued to increase in United States between 2009 and 2015, new insight into the molecular pathogenesis and the immunological tumor microenvironment of MPM, for example, regarding the role of BRCA1 associated protein 1 and the expression programmed death receptor ligand 1, are highlighting new potential therapeutic strategies. Furthermore, there continues to be an ever-expanding number of clinical studies investigating systemic therapies for MPM. These trials are primarily focused on immunotherapy using immune checkpoint inhibitors alone or in combination with other immunotherapies and nonimmunotherapies. In addition, other promising targeted therapies, including pegylated adenosine deiminase (ADI-PEG20), which focuses on argininosuccinate synthase 1-deficient tumors, and tazemetostat, an enhancer of zeste 2 polycomb repressive complex 2 subunit inhibitor of BRCA1 associated protein 1 gene (BAP1)-deficient tumors, are currently being explored.

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