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The tumor spectrum in these families is predominantly uveal malignant melanoma (<jats:styled-content style=\"fixed-case\">UMM<\/jats:styled-content>), cutaneous malignant melanoma (<jats:styled-content style=\"fixed-case\">CMM<\/jats:styled-content>) and mesothelioma, as previously reported for germline <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic> mutations. However, mutation carriers from three new families, and one previously reported family, developed basal cell carcinoma (<jats:styled-content style=\"fixed-case\">BCC<\/jats:styled-content>), thus suggesting inclusion of <jats:styled-content style=\"fixed-case\">BCC<\/jats:styled-content> in the phenotypic spectrum of the <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic> tumor syndrome. This notion is supported by the finding of loss of <jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content> protein expression by immunochemistry in two <jats:styled-content style=\"fixed-case\">BCCs<\/jats:styled-content> from individuals with germline <jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content> mutations and no loss of <jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content> staining in 53 of sporadic <jats:styled-content style=\"fixed-case\">BCCs<\/jats:styled-content> consistent with somatic mutations and loss of heterozygosity of the gene in the <jats:styled-content style=\"fixed-case\">BCCs<\/jats:styled-content> occurring in mutation carriers. Lastly, we identify the first reported recurrent mutation in <jats:italic><jats:styled-content style=\"fixed-case\">BAP1<\/jats:styled-content><\/jats:italic> (p.<jats:styled-content style=\"fixed-case\">R60X<\/jats:styled-content>), which occurred in three families from two different continents. In two of the families, the mutation was inherited from a common founder but it arose independently in the third family.<\/jats:p>","DOI":"10.1111\/cge.12501","type":"journal-article","created":{"date-parts":[[2014,9,15]],"date-time":"2014-09-15T15:15:00Z","timestamp":1410794100000},"page":"267-272","source":"Crossref","is-referenced-by-count":79,"title":["A recurrent germline <i><scp>BAP1<\/scp><\/i> mutation and extension of the <i><scp>BAP1<\/scp><\/i> tumor predisposition spectrum to include basal cell carcinoma"],"prefix":"10.1111","volume":"88","author":[{"given":"K.A.W.","family":"Wadt","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.G.","family":"Aoude","sequence":"additional","affiliation":[{"name":"QIMR Berghofer Medical Research Institute Genetics and Computational Biology  Brisbane Australia"},{"name":"University of Queensland  Brisbane 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