{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:36:29Z","timestamp":1791995789151,"version":"4.4.0"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,9,18]],"date-time":"2014-09-18T00:00:00Z","timestamp":1410998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"AIRC 2007","award":["5042"],"award-info":[{"award-number":["5042"]}]},{"name":"CIPE 2004","award":["A123 (R\/01\/238)"],"award-info":[{"award-number":["A123 (R\/01\/238)"]}]},{"name":"Fondazione BUZZI Unicem 2008","award":["P16"],"award-info":[{"award-number":["P16"]}]},{"name":"Human Genetics Foundation - HuGeF 2013-1014"},{"name":"Italian National Institute of Health - ISS 2013"},{"name":"Regione Piemonte, Bando Scienze umane e sociali, Progetto RoPHS"},{"name":"Regione Piemonte, Ricerca Sanitaria Finalizzata 2004","award":["501"],"award-info":[{"award-number":["501"]}]},{"name":"Regione Piemonte, Ricerca Sanitaria Finalizzata 2007","award":["2296"],"award-info":[{"award-number":["2296"]}]},{"name":"Regione Piemonte, Ricerca Sanitaria Finalizzata 2008","award":["3150"],"award-info":[{"award-number":["3150"]}]},{"name":"Regione Piemonte, Ricerca Sanitaria Finalizzata 2009","award":["36529"],"award-info":[{"award-number":["36529"]}]},{"name":"Regione Piemonte, Ricerca Scientifica Applicata 2003","award":["27.001"],"award-info":[{"award-number":["27.001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:p>\n                    Inherited loss\u2010of\u2010function mutations in the\n                    <jats:italic>BAP1<\/jats:italic>\n                    oncosuppressor gene are responsible for an inherited syndrome with predisposition to malignant mesothelioma (MM), uveal and keratinocytic melanoma, and other malignancies. Germline mutations that were inherited in an autosomal dominant fashion were identified in nine families with multiplex MM cases and 25 families with multiple melanoma, renal cell carcinoma, and other tumors. Germline mutations were also identified in sporadic MM cases, suggesting that germline mutations in\n                    <jats:italic>BAP1<\/jats:italic>\n                    occur frequently. In this article, we report the analysis of\n                    <jats:italic>BAP1<\/jats:italic>\n                    in five multiplex MM families and in 103 sporadic cases of MM. One family carried a new truncating germline mutation. Using immunohistochemistry, we show that BAP1 is not expressed in tumor tissue, which is in accordance with Knudson's two hits hypothesis. Interestingly, whereas the three individuals who were possibly exposed to asbestos developed MM, the individual who was not exposed developed a different tumor type, that is, mucoepidermoid carcinoma. This finding suggests that the type of carcinogen exposure may be important for the cancer type that is developed by mutation carriers. On the contrary, the other families or the 103 sporadic patients did not show germline mutations in\n                    <jats:italic>BAP1<\/jats:italic>\n                    . Our data show that\n                    <jats:italic>BAP1<\/jats:italic>\n                    mutations are very rare in patients with sporadic MM, and we report a new\n                    <jats:italic>BAP1<\/jats:italic>\n                    mutation, extend the cancer types associated with these mutations, and suggest the existence of other yet unknown genes in the pathogenesis of familial MM. \u00a9 2014 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/gcc.22218","type":"journal-article","created":{"date-parts":[[2014,9,18]],"date-time":"2014-09-18T02:39:15Z","timestamp":1411007955000},"page":"51-62","source":"Crossref","is-referenced-by-count":63,"title":["Inference on germline\n                    <i>BAP1<\/i>\n                    mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high\u2010risk area"],"prefix":"10.1002","volume":"54","author":[{"given":"Marta","family":"Betti","sequence":"first","affiliation":[{"name":"Department of Health Sciences University of Piemonte Orientale Novara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Casalone","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Piemonte Orientale Novara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Ferrante","sequence":"additional","affiliation":[{"name":"CPO\u2010Piemonte and Unit of Medical Statistics and Epidemiology, Department of Translational Medicine University of Piemonte Orientale Novara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Romanelli","sequence":"additional","affiliation":[{"name":"Emilia\u2010Romagna Mesothelioma Registry Department of Public Health Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Grosso","sequence":"additional","affiliation":[{"name":"Division of Medical Oncology SS. Antonio e Biagio General Hospital Alessandria Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Guarrera","sequence":"additional","affiliation":[{"name":"Human Genetics Foundation, HuGeF Turin Italy"},{"name":"Department of Medical Sciences University of Turin  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisella","family":"Righi","sequence":"additional","affiliation":[{"name":"Department of Oncology University of Turin at San Luigi Hospital Orbassano Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Vatrano","sequence":"additional","affiliation":[{"name":"Department of Oncology University of Turin at San Luigi Hospital Orbassano Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Pelosi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Fondazione IRCCS Istituto Nazionale Tumori Milan Italy"},{"name":"Department of Biomedical and Clinical Sciences \u201cLuigi Sacco\u201d University of Milan  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Libener","sequence":"additional","affiliation":[{"name":"Pathology Unit SS. Antonio e Biagio General Hospital Alessandria Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Mirabelli","sequence":"additional","affiliation":[{"name":"Unit of Cancer Epidemiology CPO\u2010Piemonte and University of Turin  Italy"},{"name":"Interdepartmental Center \u201cG. Scansetti\u201d University of Turin  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Boldorini","sequence":"additional","affiliation":[{"name":"Department of Health Sciences Section of Pathological Anatomy, University of Piemonte Orientale Novara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Casadio","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Piemonte Orientale Novara Italy"},{"name":"Thoracic Surgery Unit, Azienda Ospedaliero\u2010Universitaria \u201cMaggiore della Carit\u00e0\u201d Novara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Papotti","sequence":"additional","affiliation":[{"name":"Department of Oncology University of Turin at San Luigi Hospital Orbassano Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Matullo","sequence":"additional","affiliation":[{"name":"Human Genetics Foundation, HuGeF Turin Italy"},{"name":"Department of Medical Sciences University of Turin  Italy"},{"name":"Interdepartmental Center \u201cG. Scansetti\u201d University of Turin  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Magnani","sequence":"additional","affiliation":[{"name":"CPO\u2010Piemonte and Unit of Medical Statistics and Epidemiology, Department of Translational Medicine University of Piemonte Orientale Novara Italy"},{"name":"Interdepartmental Center \u201cG. Scansetti\u201d University of Turin  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irma","family":"Dianzani","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Piemonte Orientale Novara Italy"},{"name":"Interdepartmental Center \u201cG. 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