{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:58:19Z","timestamp":1781650699716,"version":"3.54.5"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001734","name":"Copenhagen University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001734","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>BAP1<\/jats:italic>\n                    gene encodes a tumor suppressor protein implicated in\n                    <jats:italic>BAP1<\/jats:italic>\n                    tumor predisposition syndrome (\n                    <jats:italic>BAP1<\/jats:italic>\n                    -TPDS), a hereditary condition associated with an increased risk of uveal and skin melanoma, mesothelioma, and renal cancer. In this case report, we describe a male patient diagnosed with mesothelioma carrying a germline\n                    <jats:italic>BAP1<\/jats:italic>\n                    variant. The patient exhibited severe nail abnormalities affecting all ten fingernails and several toenails. To our knowledge, the association between onychopapilloma and pathogenic germline\n                    <jats:italic>BAP1<\/jats:italic>\n                    variants has only been reported once in the literature. The patient had experienced nail abnormalities since adolescence. Based on these findings, we propose that polydactylous onychopapilloma may serve as a clinical marker of\n                    <jats:italic>BAP1<\/jats:italic>\n                    -TPDS in otherwise asymptomatic individuals, and could potentially aid in early identification of at-risk carriers.\n                  <\/jats:p>","DOI":"10.1007\/s10689-026-00558-z","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T09:06:22Z","timestamp":1776848782000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome\u2014a useful clinical marker?"],"prefix":"10.1007","volume":"25","author":[{"given":"Emilie","family":"Sj\u00f8str\u00f8m","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise Barlebo","family":"Ahlborn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth Victoria","family":"Eliesen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Wadt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrikke","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Byrjalsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,22]]},"reference":[{"key":"558_CR1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-0365","author":"KH Ventii","year":"2008","unstructured":"Ventii KH et al (2008) BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res. https:\/\/doi.org\/10.1158\/0008-5472.CAN-08-0365","journal-title":"Cancer Res"},{"key":"558_CR2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100156","author":"MH Abdel-Rahman","year":"2011","unstructured":"Abdel-Rahman MH et al (2011) Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet. https:\/\/doi.org\/10.1136\/jmedgenet-2011-100156","journal-title":"J Med Genet"},{"key":"558_CR3","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12006","author":"K Wadt","year":"2012","unstructured":"Wadt K et al (2012) A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res. https:\/\/doi.org\/10.1111\/pcmr.12006","journal-title":"Pigment Cell Melanoma Res"},{"key":"558_CR4","doi-asserted-by":"publisher","DOI":"10.1038\/ng.912","author":"JR Testa","year":"2011","unstructured":"Testa JR et al (2011) Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet. https:\/\/doi.org\/10.1038\/ng.912","journal-title":"Nat Genet"},{"key":"558_CR5","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910","author":"T Wiesner","year":"2011","unstructured":"Wiesner T et al (2011) Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet. https:\/\/doi.org\/10.1038\/ng.910","journal-title":"Nat Genet"},{"key":"558_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.012","author":"T Popova","year":"2013","unstructured":"Popova T et al (2013) Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet. https:\/\/doi.org\/10.1016\/j.ajhg.2013.04.012","journal-title":"Am J Hum Genet"},{"key":"558_CR7","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12501","author":"KAW Wadt","year":"2015","unstructured":"Wadt KAW et al (2015) A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin Genet. https:\/\/doi.org\/10.1111\/cge.12501","journal-title":"Clin Genet"},{"key":"558_CR8","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy171","author":"S Walpole","year":"2018","unstructured":"Walpole S et al (2018) Comprehensive study of the clinical phenotype of germline BAP1 variant-carrying families worldwide. JNCI J Natl Cancer Inst. https:\/\/doi.org\/10.1093\/jnci\/djy171","journal-title":"JNCI J Natl Cancer Inst"},{"issue":"8","key":"558_CR9","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1001\/jamadermatol.2024.1804","volume":"160","author":"A Lebensohn","year":"2024","unstructured":"Lebensohn A et al (2024) Multiple onychopapillomas and BAP1 Tumor Predisposition Syndrome.,. JAMA Dermatol 160(8):838\u2013845. https:\/\/doi.org\/10.1001\/jamadermatol.2024.1804","journal-title":"JAMA Dermatol"},{"key":"558_CR10","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01448-z","author":"F Lalloo","year":"2023","unstructured":"Lalloo F et al (2023) Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome. Eur J Hum Genet. https:\/\/doi.org\/10.1038\/s41431-023-01448-z","journal-title":"Eur J Hum Genet"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-026-00558-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-026-00558-z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-026-00558-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:33:19Z","timestamp":1781649199000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-026-00558-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,22]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["558"],"URL":"https:\/\/doi.org\/10.1007\/s10689-026-00558-z","relation":{},"ISSN":["1573-7292"],"issn-type":[{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,22]]},"assertion":[{"value":"13 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 April 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The authors obtained written consent from the patient for his photographs and medical information to be published in print and online and with the understanding that this information may be publicly available. Patient consent forms were not provided to the journal but are retained by the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed constent"}}],"article-number":"43"}}