{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:47:06Z","timestamp":1791416826467,"version":"4.3.3"},"reference-count":91,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T00:00:00Z","timestamp":1436832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000048","name":"American Cancer Society","doi-asserted-by":"publisher","award":["IRG\u201067\u2010003\u201047"],"award-info":[{"award-number":["IRG\u201067\u2010003\u201047"]}],"id":[{"id":"10.13039\/100000048","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R21CA191943"],"award-info":[{"award-number":["R21CA191943"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["K08EY022672"],"award-info":[{"award-number":["K08EY022672"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:p>The <jats:italic><jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content>\u2010associated protein\u20101<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic>) tumor predisposition syndrome (<jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic>\u2010<jats:styled-content style=\"fixed-case\">TPDS<\/jats:styled-content>) is a recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a comprehensive review of published research into <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic>\u2010<jats:styled-content style=\"fixed-case\">TPDS<\/jats:styled-content> to more thoroughly delineate the clinical implications of germline <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic> mutations. We also report two additional families with germline <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic> mutations. Current evidence demonstrates that germline <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic> mutations predispose families to uveal melanoma, renal cell carcinoma, malignant mesothelioma, cutaneous melanoma, and possibly to a range of other cancers as well. Some of these cancers tend to be more aggressive, have a propensity to metastasize, and onset earlier in life in patients with <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic> mutations as compared to non\u2010predisposed patients with equivalent cancers. Although further research is necessary, this information can aid in the management, diagnosis, and therapy of these patients and their families, and highlights the importance of genetic counseling.<\/jats:p>","DOI":"10.1111\/cge.12630","type":"journal-article","created":{"date-parts":[[2015,6,22]],"date-time":"2015-06-22T07:21:02Z","timestamp":1434957662000},"page":"285-294","source":"Crossref","is-referenced-by-count":211,"title":["Comprehensive review of <i><scp>BAP1<\/scp><\/i> tumor predisposition syndrome with report of two new cases"],"prefix":"10.1111","volume":"89","author":[{"given":"K.","family":"Rai","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center The Ohio State University  Columbus OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Pilarski","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center The Ohio State University  Columbus OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.M.","family":"Cebulla","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Science, Havener Eye Institute The Ohio State University  Columbus OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.H.","family":"Abdel\u2010Rahman","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center The Ohio State University  Columbus OH USA"},{"name":"Department of Ophthalmology and Visual Science, Havener Eye Institute The Ohio State University  Columbus OH USA"},{"name":"Department of Pathology Menoufiya University  Shebin Elkoum Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,7,14]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. Baltimore MD: Johns Hopkins University 2014: MIM Number: 614327."},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100156"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.912"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.012"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201861"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-0365"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12013-011-9184-6"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2013.10.035"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1309085110"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1999.tb09414.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3835(99)90004-6"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3459"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAT.0b013e32835d0efb"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1228463"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00396-10"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1221711"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22129"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1010734"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12046"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0072144"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2013.05.018"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12472"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2015.1119"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1194472"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22035"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2013-303814"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035295"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12006"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12501"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2011.01.040"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22218"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdt135"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.41.2965"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.12-1-20"},{"key":"e_1_2_7_38_1","unstructured":"Surveillance Epidemiology and End Results (SEER) Program. In: National Cancer Institute D Surveillance Research Program Surveillance Systems Branch ed. 2013."},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.MCR-13-0111"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22116"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2323"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-828889"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-015-1423-2"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/nou223"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq929"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2014.417"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2014.43"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAT.0000000000000002"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdl345"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12253-013-9677-2"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-015-0485-1"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.855"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1097\/JTO.0000000000000471"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAT.0b013e3283653818"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2014.10.015"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2012.09.005"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-12-3886"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.urolonc.2014.10.014"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.28521"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2013.09.041"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00261-015-0386-z"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-10-179"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.10.032"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3182498be5"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12386"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2013.1529"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e318263648c"},{"key":"e_1_2_7_68_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2806"},{"key":"e_1_2_7_69_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0115383"},{"key":"e_1_2_7_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0463.2012.02909.x"},{"key":"e_1_2_7_71_1","first-page":"436","article-title":"Diverse modes of genomic alteration in hepatocellular carcinoma","volume":"15","author":"Jhunjhunwala S","year":"2014","journal-title":"Genome Biol"},{"key":"e_1_2_7_72_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2813"},{"key":"e_1_2_7_73_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2014-305371"},{"key":"e_1_2_7_74_1","doi-asserted-by":"publisher","DOI":"10.1309\/AJCPG8LFJC0DHDQT"},{"key":"e_1_2_7_75_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.1943"},{"key":"e_1_2_7_76_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12032-013-0541-8"},{"key":"e_1_2_7_77_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-005-2833-4"},{"key":"e_1_2_7_78_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.6"},{"key":"e_1_2_7_79_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.13130663"},{"key":"e_1_2_7_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(12)70584-3"},{"key":"e_1_2_7_81_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.528"},{"key":"e_1_2_7_82_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgu227"},{"key":"e_1_2_7_83_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-13-2429"},{"key":"e_1_2_7_84_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tranon.2014.12.002"},{"key":"e_1_2_7_85_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.12.014"},{"key":"e_1_2_7_86_1","doi-asserted-by":"publisher","DOI":"10.5271\/sjweh.3462"},{"key":"e_1_2_7_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(02)00894-X"},{"key":"e_1_2_7_88_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1999.17.10.3245"},{"key":"e_1_2_7_89_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)13643-4"},{"key":"e_1_2_7_90_1","doi-asserted-by":"publisher","DOI":"10.7314\/APJCP.2015.16.4.1403"},{"key":"e_1_2_7_91_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-0946"},{"key":"e_1_2_7_92_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0114483"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12630","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12630","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T11:10:23Z","timestamp":1696331423000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12630"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,14]]},"references-count":91,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1111\/cge.12630"],"URL":"https:\/\/doi.org\/10.1111\/cge.12630","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,14]]}}}