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      Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members

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          Abstract

          Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who developed malignant peritoneal mesothelioma at age 45 in the absence of known asbestos exposure. These findings lead us to hypothesize that the mesothelioma occurred in the setting of germline a BAP1 mutation. This was confirmed by genetic testing. The subsequent therapeutic choices for the patient and testing of at-risk family members highlight the importance of recognizing this genetic syndrome and screening for individuals at high risk.

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          BAP1 and cancer

          Thomas Krausz, Giovanni Gaudino, Joseph Testa … (2013)
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            BAP1 regulates IP3R3-mediated Ca 2+ flux to mitochondria suppressing cell transformation

            Angela Bononi, Carlotta Giorgi, Simone Patergnani … (2017)
            BRCA1-associated protein 1 (BAP1) is a potent tumor suppressor gene that modulates environmental carcinogenesis 1-3 . All carriers of inherited heterozygous germline BAP1 inactivating mutations (BAP1+/-) developed one and often several BAP1-/- malignancies in their lifetime 4 , mostly malignant mesothelioma (MM), uveal melanoma (UVM) 2,5 , etc 6-10 . Moreover, BAP1 acquired biallelic mutations are frequent in human cancers 8,11-14 . BAP1 tumor suppressor activity has been attributed to its nuclear localization where BAP1 helps maintaining genome integrity 15-17 . The possible activity of BAP1 in the cytoplasm was unknown. Cells with reduced levels of BAP1 exhibit chromosomal abnormalities and decreased DNA repair by homologous recombination 18 , indicating that BAP1 dosage is critical. Cells with extensive DNA damage should die and not grow into malignancies. We discovered that BAP1 localizes at the endoplasmic reticulum (ER). Here BAP1 binds, deubiquitylates and stabilizes type-3 inositol-1,4,5-trisphosphate-receptor (IP3R3), modulating calcium (Ca2+) release from the ER into the cytosol and mitochondria, promoting apoptosis. Reduced levels of BAP1 in BAP1+/- carriers caused reduction of both IP3R3 levels and Ca2+ flux, preventing BAP1+/- cells that had accumulated DNA damage from executing apoptosis. A higher fraction of cells exposed to either ionizing or ultraviolet radiation, or to asbestos, survived genotoxic stress resulting in a higher rate of cellular transformation. We propose that the high incidence of cancers in BAP1+/- carriers results from the combined reduced nuclear and cytoplasmic BAP1 activities. Our data provide a mechanistic rationale for the powerful ability of BAP1 to regulate gene-environment interaction.
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              Whole-exome sequencing reveals frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1 in malignant pleural mesothelioma.

              Guangwu Guo, Juliann Chmielecki, Chandra Mouli V Goparaju … (2015)
              Malignant pleural mesothelioma (MPM) is an aggressive neoplasm associated with asbestos exposure. Although previous studies based on candidate gene approaches have identified important common somatic mutations in MPM, these studies have focused on small sets of genes and have provided a limited view of the genetic alterations underlying this disease. Here, we performed whole-exome sequencing on DNA from 22 MPMs and matched blood samples, and identified 517 somatic mutations across 490 mutated genes. Integrative analysis of mutations and somatic copy-number alterations revealed frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1. Our study presents the first unbiased view of the genomic basis of MPM. ©2014 American Association for Cancer Research.
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                Author and article information

                Contributors
                Muaiad Kittaneh:
                ORCID: http://orcid.org/0000-0003-1187-593X
                (708) 873-2414 , mkittaneh@me.com
                Charles Berkelhammer: (708) 499-5678 , charlesberkel@aol.com
                Journal
                Journal ID (nlm-ta): J Transl Med
                Journal ID (iso-abbrev): J Transl Med
                Title: Journal of Translational Medicine
                Publisher: BioMed Central (London )
                ISSN (Electronic): 1479-5876
                Publication date (Electronic): 13 July 2018
                Publication date PMC-release: 13 July 2018
                Publication date Collection: 2018
                Volume: 16
                Electronic Location Identifier: 194
                Affiliations
                [1 ]ISNI 0000 0001 1089 6558, GRID grid.164971.c, Loyola University, ; 15300 West Avenue, Orland Park, IL 60462 USA
                [2 ]University of Illinois, 9921 Southwest Highway, Oak Lawn, IL 60453 USA
                Author information
                http://orcid.org/0000-0003-1187-593X
                Article
                Publisher ID: 1559
                DOI: 10.1186/s12967-018-1559-7
                PMC ID: 6044070
                PubMed ID: 30001711
                SO-VID: 891ecf71-8c94-46f8-a4f6-63d9078643df
                Copyright © © The Author(s) 2018
                License:

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                Date received : 30 April 2018
                Date accepted : 23 June 2018
                Categories
                Subject: Review
                Custom metadata
                issue-copyright-statement © The Author(s) 2018

                ScienceOpen disciplines: Medicine
                Keywords: bap1,germline,familial,mesothelioma,melanoma,screening,early detection
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: bap1, germline, familial, mesothelioma, melanoma, screening, early detection

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