{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:13:31Z","timestamp":1791213211338,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T00:00:00Z","timestamp":1410134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:p>The BRCA1\u2010associated protein 1 (<jats:italic>BAP1<\/jats:italic>) gene encodes a nuclear deubiquitin enzyme which acts as a tumour suppressor. Loss of function germline mutations of <jats:italic>BAP1<\/jats:italic> have been associated with an enhanced risk of uveal and cutaneous melanomas, mesothelioma, clear cell renal cancer and atypical cutaneous melanocytic proliferations. In two independent <jats:italic>BAP1<\/jats:italic> families, we noticed an unusual frequency of basal cell carcinomas (BCCs). Indeed, 19 BCCs were diagnosed in four patients, either of superficial (13\/19) or nodular (6\/19) subtype; they were all located in chronic sun\u2010exposed areas (limbs, head or neck). Immunohistochemistry (IHC) identified in the 19 tumours, complete or partial loss of BAP1 protein nuclear expression, restricted to the BCC nests. A control study was conducted in 22 sporadic BCCs in 22 subjects under 65 without known associated BAP1 tumours: no loss of BAP1 expression was found. Overall, our observations suggest that BCCs are part of the <jats:italic>BAP1<\/jats:italic> cancer syndrome, perhaps in relation with chronic sun exposure and melanocortin 1 receptor (<jats:italic>MC1R<\/jats:italic>) variants. In conclusion, cutaneous follow\u2010up of <jats:italic>BAP1<\/jats:italic> carriers should not only aim to detect melanocytic neoplasms but also BCCs.<\/jats:p>","DOI":"10.1111\/cge.12472","type":"journal-article","created":{"date-parts":[[2014,7,31]],"date-time":"2014-07-31T07:29:03Z","timestamp":1406791743000},"page":"273-277","source":"Crossref","is-referenced-by-count":83,"title":["Germline <i><scp>BAP1<\/scp><\/i> mutations predispose also to multiple basal cell carcinomas"],"prefix":"10.1111","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2251-8241","authenticated-orcid":false,"given":"A.","family":"de la Fouchardi\u00e8re","sequence":"first","affiliation":[{"name":"D\u00e9partement de Biopathologie Centre Leon B\u00e9rard  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Cabaret","sequence":"additional","affiliation":[{"name":"Gustave Roussy Service de G\u00e9n\u00e9tique  Villejuif 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