{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:16:07Z","timestamp":1791821767695,"version":"4.3.4"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T00:00:00Z","timestamp":1710892800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>BAP1<\/jats:italic>\n                    tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in\n                    <jats:italic>BAP1<\/jats:italic>\n                    have been associated with heritable conditions including\n                    <jats:italic>BAP1<\/jats:italic>\n                    tumor predisposition syndrome 1 (BAP1\u2010TPDS1) and a neurodevelopmental disorder known as Kury\u2010Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant alterations of\n                    <jats:italic>BAP1<\/jats:italic>\n                    but have never been reported in the same subject or family, suggesting a mutually exclusive genotype\u2013phenotype correlation. This distinction is extremely important considering the early onset and aggressive nature of the types of cancer reported in individuals with TPDS1. Genetic counseling in subjects with germline\n                    <jats:italic>BAP1<\/jats:italic>\n                    variants is fundamental to predicting the effect of the variant and the expected phenotype, assessing the potential risk of developing cancer for the tested subject and the family members who may carry the same variant and providing the multidisciplinary clinical team with the proper information to establish precise surveillance and management protocols.\n                  <\/jats:p>","DOI":"10.1111\/cge.14507","type":"journal-article","created":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T05:59:45Z","timestamp":1710914385000},"page":"589-595","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>BRCA1\u2010associated protein 1<\/i>\n                    : Tumor predisposition syndrome and Kury\u2010Isidor syndrome, from genotype\u2013phenotype correlation to clinical management"],"prefix":"10.1111","volume":"105","author":[{"given":"Elizabeth Casey","family":"West","sequence":"first","affiliation":[{"name":"Healthcare Genetics and Genomics, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Chiappetta","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aubrey Anne","family":"Mattingly","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Congedo","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Campanella","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Sassorossi","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Flamini","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Rossi","sequence":"additional","affiliation":[{"name":"Laboratory of Translational Research Azienda USL\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariaelena","family":"Pistoni","sequence":"additional","affiliation":[{"name":"Laboratory of Translational Research Azienda USL\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovico","family":"Abenavoli","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University \u201cMagna Gr\u00e6cia\u201d  Catanzaro Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Margaritora","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"},{"name":"Catholic University of the Sacred Heart  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Lococo","sequence":"additional","affiliation":[{"name":"Thoracic Surgery Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"},{"name":"Catholic University of the Sacred Heart  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2017-4270","authenticated-orcid":false,"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.912"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/JNCI\/DJY171"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/CANCERS11081114"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.AJHG.2021.12.011"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.JTHO.2022.03.014"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008\u20105472.CAN\u201013\u20103109\/651381\/AM\/GERM\u2010LINE\u2010MUTATIONS\u2010IN\u2010BAP1\u2010IMPAIR\u2010ITS\u2010FUNCTION\u2010IN"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.REDOX.2022.102336"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.TIG.2021.07.011"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689\u2010016\u20109865\u20109"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008\u20105472.CAN\u201015\u20100295"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1010734"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.012"},{"key":"e_1_2_9_15_1","unstructured":"Entry\u2014#619762\u2014KURY\u2010ISIDOR SYNDROME; KURIS\u2014OMIM. Accessed October 13 2023.https:\/\/www.omim.org\/entry\/619762?search=kuris&highlight=kuris"},{"key":"e_1_2_9_16_1","unstructured":"Human hg38 chr3:52401008\u201352410008 UCSC Genome Browser v454. Accessed October 13 2023.https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg38&lastVirtModeType=default&lastVirtModeExtraState=&virtModeType=default&virtMode=0&nonVirtPosition=&position=chr3%3A52401008-52410008&hgsid=1729212848_VHinQli82e6GyFC0FIitBn7bVlk8"},{"key":"e_1_2_9_17_1","unstructured":"bap1[gene]\u2014ClinVar\u2014NCBI. Accessed September 13 2023.https:\/\/www.ncbi.nlm.nih.gov\/clinvar"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/DIAGNOSTICS12071710\/S1"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12630"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2015.243"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2016.01.008"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.31984"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgu227"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.21037\/tlcr.2017.05.03"},{"key":"e_1_2_9_25_1","first-page":"1993","volume-title":"GeneReviews\u00ae Internet","author":"Pilarski R","year":"2016"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtho.2019.07.002"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.966063"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2021.32615"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2017.12.022"},{"key":"e_1_2_9_30_1","unstructured":"Long Term Follow\u2010up of Mesothelioma Patients and Their Family Members with Germline Mutations in BAP1 and Other Genes\u2014Full Text View\u2014ClinicalTrials.gov. Accessed July 20 2023.https:\/\/classic.clinicaltrials.gov\/ct2\/show\/NCT03830229"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010023\u201001448\u2010z"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1200\/CCI.20.00124"},{"key":"e_1_2_9_33_1","unstructured":"National Cancer Institute (NCI).Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging Noninvasive (Liquid) Biopsies and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients with BAP1 Tumor Predisposition Syndrome\u2014ClinicalTrials.gov; 2023. Accessed December 31 2023.https:\/\/clinicaltrials.gov\/study\/NCT04431024"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annonc.2022.12.003"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14507","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T21:36:44Z","timestamp":1714599404000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14507"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,20]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1111\/cge.14507"],"URL":"https:\/\/doi.org\/10.1111\/cge.14507","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14507\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14507\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14507\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14507\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14507\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14507\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,20]]},"assertion":[{"value":"2023-11-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}