{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T21:06:28Z","timestamp":1791061588653,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2012,11]]},"abstract":"Summary<\/jats:title>Inactivating germ line BRCA<\/jats:styled-content>1\u2010associated protein\u20101 (BAP1<\/jats:italic><\/jats:styled-content>) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM<\/jats:styled-content>, CMM<\/jats:styled-content>), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ line BAP1<\/jats:italic><\/jats:styled-content> mutations has yet to be established. Here, we report a novel germ line BAP1<\/jats:italic><\/jats:styled-content> splice mutation, c.1708C<\/jats:styled-content>>G<\/jats:styled-content> (p.Leu570fs*40), in a multiple\u2010case D<\/jats:styled-content>anish UMM<\/jats:styled-content> family with a spectrum of other tumors. Whole\u2010exome sequencing identified an apparent missense mutation of BAP1<\/jats:italic><\/jats:styled-content> in UMM<\/jats:styled-content>, CMM<\/jats:styled-content>, as well as paraganglioma, breast cancer, and suspected mesothelioma cases in the family. Bioinformatic analysis and splicing assays demonstrated that this mutation creates a strong cryptic splice donor, resulting in aberrant splicing and a truncating frameshift of the BAP1<\/jats:italic><\/jats:styled-content> transcript. Somatic loss of the wild\u2010type allele was also confirmed in the UMM<\/jats:styled-content> and paraganglioma tumors. Our findings further support BAP1<\/jats:italic><\/jats:styled-content> as a melanoma susceptibility gene and extend the potential predisposition spectrum to paraganglioma.<\/jats:p>","DOI":"10.1111\/pcmr.12006","type":"journal-article","created":{"date-parts":[[2012,8,13]],"date-time":"2012-08-13T11:51:15Z","timestamp":1344858675000},"page":"815-818","source":"Crossref","is-referenced-by-count":105,"title":["A cryptic BAP1<\/i><\/scp> splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma"],"prefix":"10.1111","volume":"25","author":[{"given":"Karin","family":"Wadt","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiyeon","family":"Choi","sequence":"additional","affiliation":[{"name":"Laboratory of Translational Genomics National Cancer Institute Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joon\u2010Yong","family":"Chung","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Kiilgaard","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Glostrup University Hospital Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Heegaard","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Glostrup University Hospital Glostrup Denmark"},{"name":"Eye Pathology Section Department of Neuroscience and Pharmacology University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof T.","family":"Drzewiecki","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Breast Surgery and Burns Unit Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M.","family":"Trent","sequence":"additional","affiliation":[{"name":"Translational Genomics Research Institute Phoenix AZ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen M.","family":"Hewitt","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology Center for Cancer Research National Cancer Institute Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas K.","family":"Hayward","sequence":"additional","affiliation":[{"name":"Oncogenomics Laboratory Queensland Institute of Medical Research Brisbane QLD Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Marie","family":"Gerdes","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Brown","sequence":"additional","affiliation":[{"name":"Laboratory of Translational Genomics National Cancer Institute Bethesda MD USA"},{"name":"Translational Genomics Research Institute Phoenix AZ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100156"},{"key":"e_1_2_5_3_1","first-page":"877","article-title":"A clinicopathologic report of 54 cases","volume":"72","author":"Font R.L.","year":"1968","journal-title":"Trans. Am. Acad. Ophthalmol. Otolaryngol."},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1194472"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20151"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035295"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:3<153::AID-HUMU3>3.0.CO;2-I"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.912"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910"}],"container-title":["Pigment Cell & Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12006","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T19:08:18Z","timestamp":1695496098000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1111\/pcmr.12006"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12006","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10]]}}}