{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T09:32:07Z","timestamp":1790674327440,"version":"4.1.0"},"reference-count":52,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaad.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the American Academy of Dermatology"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.jaad.2015.08.037","type":"journal-article","created":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T12:12:32Z","timestamp":1455624752000},"page":"411-420","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":62,"title":["Hereditary melanoma: Update on syndromes and management"],"prefix":"10.1016","volume":"74","author":[{"given":"Efthymia","family":"Soura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J.","family":"Eliades","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1519-4947","authenticated-orcid":false,"given":"Kristen","family":"Shannon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander J.","family":"Stratigos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hensin","family":"Tsao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaad.2015.08.037_bib1","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.1016\/j.ejca.2005.03.034","article-title":"Meta-analysis of risk factors for cutaneous melanoma: III. Family history, actinic damage and phenotypic factors","volume":"41","author":"Gandini","year":"2005","journal-title":"Eur J Cancer"},{"key":"10.1016\/j.jaad.2015.08.037_bib2","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1101\/gad.191999.112","article-title":"Melanoma: from mutations to medicine","volume":"26","author":"Tsao","year":"2012","journal-title":"Genes Dev"},{"key":"10.1016\/j.jaad.2015.08.037_bib3","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/j.1755-148X.2012.00979.x","article-title":"The genetics of uveal melanoma: an emerging framework for targeted therapy","volume":"25","author":"Harbour","year":"2012","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1016\/j.jaad.2015.08.037_bib4","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1126\/science.1194472","article-title":"Frequent mutation of BAP1 in metastasizing uveal melanomas","volume":"330","author":"Harbour","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.jaad.2015.08.037_bib5","doi-asserted-by":"crossref","first-page":"e35295","DOI":"10.1371\/journal.pone.0035295","article-title":"Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families","volume":"7","author":"Njauw","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.jaad.2015.08.037_bib6","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1038\/ng.912","article-title":"Germline BAP1 mutations predispose to malignant mesothelioma","volume":"43","author":"Testa","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib7","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/ng.910","article-title":"Germline mutations in BAP1 predispose to melanocytic tumors","volume":"43","author":"Wiesner","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib8","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/nrc3459","article-title":"BAP1 and cancer","volume":"13","author":"Carbone","year":"2013","journal-title":"Nat Rev Cancer"},{"key":"10.1016\/j.jaad.2015.08.037_bib9","doi-asserted-by":"crossref","first-page":"37","DOI":"10.4137\/CMO.S15239","article-title":"The importance of multidisciplinary approach in early detection of BAP1 tumor predisposition syndrome: clinical management and risk assessment","volume":"8","author":"Battaglia","year":"2014","journal-title":"Clin Med Insights Oncol"},{"key":"10.1016\/j.jaad.2015.08.037_bib10","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1074\/jbc.M114.609834","article-title":"BRCA1-associated protein 1 (BAP1) deubiquitinase antagonizes the ubiquitin-mediated activation of FoxK2 target genes","volume":"290","author":"Okino","year":"2015","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaad.2015.08.037_bib11","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1093\/jnci\/86.19.1476","article-title":"Sunlight and risk of uveal melanoma","volume":"86","author":"Horn","year":"1994","journal-title":"J Natl Cancer Inst"},{"key":"10.1016\/j.jaad.2015.08.037_bib12","doi-asserted-by":"crossref","first-page":"19855","DOI":"10.1073\/pnas.0707579104","article-title":"Profiling of UV-induced ATM\/ATR signaling pathways","volume":"104","author":"Stokes","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaad.2015.08.037_bib13","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1038\/jid.2014.528","article-title":"BAP1 has a survival role in\u00a0cutaneous melanoma","volume":"135","author":"Kumar","year":"2015","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2015.08.037_bib14","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1097\/PAS.0b013e3182498be5","article-title":"A distinct subset of atypical\u00a0Spitz tumors is characterized by BRAF mutation and\u00a0loss of BAP1 expression","volume":"36","author":"Wiesner","year":"2012","journal-title":"Am J Surg Pathol"},{"key":"10.1016\/j.jaad.2015.08.037_bib15","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/1479-5876-10-179","article-title":"BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs","volume":"10","author":"Carbone","year":"2012","journal-title":"J Transl Med"},{"key":"10.1016\/j.jaad.2015.08.037_bib16","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1001\/jamaophthalmol.2015.1119","article-title":"Clinical characteristics of uveal melanoma in patients with germline BAP1 mutations","volume":"133","author":"Gupta","year":"2015","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.jaad.2015.08.037_bib17","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/gcc.22129","article-title":"Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases","volume":"53","author":"Pilarski","year":"2014","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1016\/j.jaad.2015.08.037_bib18","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1111\/pcmr.12006","article-title":"A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma","volume":"25","author":"Wadt","year":"2012","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1016\/j.jaad.2015.08.037_bib19","doi-asserted-by":"crossref","first-page":"e337","DOI":"10.1200\/JCO.2011.41.2965","article-title":"Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations","volume":"30","author":"Wiesner","year":"2012","journal-title":"J Clin Oncol"},{"key":"10.1016\/j.jaad.2015.08.037_bib20","doi-asserted-by":"crossref","first-page":"e72144","DOI":"10.1371\/journal.pone.0072144","article-title":"A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers","volume":"8","author":"Aoude","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.jaad.2015.08.037_bib21","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/carcin\/bgp268","article-title":"Telomeres and telomerase in cancer","volume":"31","author":"Artandi","year":"2010","journal-title":"Carcinogenesis"},{"key":"10.1016\/j.jaad.2015.08.037_bib22","doi-asserted-by":"crossref","first-page":"4446","DOI":"10.1182\/blood-2007-08-019729","article-title":"Telomere maintenance and human bone marrow failure","volume":"111","author":"Calado","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.jaad.2015.08.037_bib23","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1038\/nature05454","article-title":"The POT1-TPP1 telomere complex is a telomerase processivity factor","volume":"445","author":"Wang","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jaad.2015.08.037_bib24","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1038\/nrg3246","article-title":"The telomere syndromes","volume":"13","author":"Armanios","year":"2012","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib25","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1126\/science.1230062","article-title":"TERT promoter mutations in familial and sporadic melanoma","volume":"339","author":"Horn","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.jaad.2015.08.037_bib26","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1126\/science.1229259","article-title":"Highly recurrent TERT promoter mutations in human melanoma","volume":"339","author":"Huang","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.jaad.2015.08.037_bib27","doi-asserted-by":"crossref","first-page":"e71121","DOI":"10.1371\/journal.pone.0071121","article-title":"Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations","volume":"8","author":"Burke","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.jaad.2015.08.037_bib28","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1126\/science.aab0015","article-title":"Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer","volume":"348","author":"Bell","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.jaad.2015.08.037_bib29","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1038\/jid.2014.163","article-title":"TERT promoter mutations in skin cancer: the effects of sun exposure and X-irradiation","volume":"134","author":"Populo","year":"2014","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2015.08.037_bib30","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1158\/1055-9965.EPI-14-1426","article-title":"Inherited genetic variants associated with occurrence of multiple primary melanoma","volume":"24","author":"Gibbs","year":"2015","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.jaad.2015.08.037_bib31","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1038\/ncomms3185","article-title":"Frequency of TERT promoter mutations in human cancers","volume":"4","author":"Vinagre","year":"2013","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaad.2015.08.037_bib32","doi-asserted-by":"crossref","first-page":"3168","DOI":"10.1016\/j.ejca.2014.09.017","article-title":"Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk","volume":"50","author":"Llorca-Cardenosa","year":"2014","journal-title":"Eur J Cancer"},{"key":"10.1016\/j.jaad.2015.08.037_bib33","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s00439-010-0921-5","article-title":"Genetic variants in telomere-maintaining genes and skin cancer risk","volume":"129","author":"Nan","year":"2011","journal-title":"Hum Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib34","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1158\/1055-9965.EPI-07-0152","article-title":"Nevus size and number are associated with telomere length and represent potential markers of a decreased senescence in\u00a0vivo","volume":"16","author":"Bataille","year":"2007","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.jaad.2015.08.037_bib35","doi-asserted-by":"crossref","DOI":"10.1093\/jnci\/dju267","article-title":"The effect on melanoma\u00a0risk of genes previously associated with telomere\u00a0length","volume":"106","author":"Iles","year":"2014","journal-title":"J Natl Cancer Inst"},{"key":"10.1016\/j.jaad.2015.08.037_bib36","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/ng.2941","article-title":"Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma","volume":"46","author":"Shi","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib37","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/ng.2947","article-title":"POT1 loss-of-function variants predispose to familial melanoma","volume":"46","author":"Robles-Espinoza","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib38","doi-asserted-by":"crossref","DOI":"10.1093\/jnci\/dju408","article-title":"Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma","volume":"107","author":"Aoude","year":"2015","journal-title":"J Natl Cancer Inst"},{"key":"10.1016\/j.jaad.2015.08.037_bib39","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1093\/jnci\/djt277","article-title":"Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria","volume":"105","author":"Pilarski","year":"2013","journal-title":"J Natl Cancer Inst"},{"key":"10.1016\/j.jaad.2015.08.037_bib40","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1097\/GIM.0b013e3181ac9aea","article-title":"PTEN hamartoma tumor syndrome: an overview","volume":"11","author":"Hobert","year":"2009","journal-title":"Genet Med"},{"key":"10.1016\/j.jaad.2015.08.037_bib41","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1158\/1078-0432.CCR-11-2283","article-title":"Lifetime cancer risks in individuals with germline PTEN mutations","volume":"18","author":"Tan","year":"2012","journal-title":"Clin Cancer Res"},{"key":"10.1016\/j.jaad.2015.08.037_bib42","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1136\/jmedgenet-2012-101339","article-title":"High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome","volume":"50","author":"Bubien","year":"2013","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib43","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/nature10539","article-title":"A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma","volume":"480","author":"Bertolotto","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.jaad.2015.08.037_bib44","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/pcmr.12047","article-title":"Prevalence of the\u00a0E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family\u00a0cancer history","volume":"26","author":"Ghiorzo","year":"2013","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1016\/j.jaad.2015.08.037_bib45","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nature10630","article-title":"A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma","volume":"480","author":"Yokoyama","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.jaad.2015.08.037_bib46","doi-asserted-by":"crossref","first-page":"235","DOI":"10.2217\/fon.12.177","article-title":"MITF, the Janus transcription factor of melanoma","volume":"9","author":"Koludrovic","year":"2013","journal-title":"Future Oncol"},{"key":"10.1016\/j.jaad.2015.08.037_bib47","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/jid.2013.272","article-title":"Phenotypiccharacterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients","volume":"134","author":"Sturm","year":"2014","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2015.08.037_bib48","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/jid.2013.390","article-title":"The impact of MITF on melanoma development: news from bench and bedside","volume":"134","author":"Roider","year":"2014","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaad.2015.08.037_bib49","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1136\/jmedgenet-2011-100156","article-title":"Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers","volume":"48","author":"Abdel-Rahman","year":"2011","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib50","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1038\/ng.2566","article-title":"Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer","volume":"45","author":"Bojesen","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaad.2015.08.037_bib51","doi-asserted-by":"crossref","first-page":"e16","DOI":"10.1017\/S146239941000147X","article-title":"Variation at the TERT locus and predisposition for cancer","volume":"12","author":"Baird","year":"2010","journal-title":"Expert Rev Mol Med"},{"key":"10.1016\/j.jaad.2015.08.037_bib52","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s10689-011-9506-2","article-title":"Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations","volume":"11","author":"Moran","year":"2012","journal-title":"Fam Cancer"}],"container-title":["Journal of the American Academy of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962215021076?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0190962215021076?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T22:36:42Z","timestamp":1759271802000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0190962215021076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":52,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["S0190962215021076"],"URL":"https:\/\/doi.org\/10.1016\/j.jaad.2015.08.037","relation":{},"ISSN":["0190-9622"],"issn-type":[{"value":"0190-9622","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hereditary melanoma: Update on syndromes and management","name":"articletitle","label":"Article Title"},{"value":"Journal of the American Academy of Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaad.2015.08.037","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/S0190-9622(16)00080-3","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}