{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:17:15Z","timestamp":1791217035244,"version":"4.1.0"},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,12,10]],"date-time":"2012-12-10T00:00:00Z","timestamp":1355097600000},"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":[[2013,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A <jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>rench and an <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ustralian study have recently identified a rare germline functional variant in the microphthalmia\u2010associated transcription factor (<jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content>) (<jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>318<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (<jats:styled-content style=\"fixed-case\">RCC<\/jats:styled-content>), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer. The aim of this study was to test the prevalence of the <jats:styled-content style=\"fixed-case\">MITF E<\/jats:styled-content>318<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content> mutation in 667 <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>talian melanoma patients. We observed significant associations between histological subtypes and family cancer history. Carriers exhibited a nearly threefold higher risk of developing melanoma compared with controls. Carriers were also more likely to have developed multiple primary melanomas (6.40\u2010fold), compared with wt patients. Carriers with a personal and\/or family history of pancreatic cancer and kidney cancer had a nearly 31\u2010 and eightfold higher risk of developing melanoma compared with wt patients. Our findings further support <jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content> as a medium\u2010penetrance melanoma susceptibility gene, highlight a potential association with histological subtypes and suggest that <jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content> may predispose to pancreatic cancer.<\/jats:p>","DOI":"10.1111\/pcmr.12047","type":"journal-article","created":{"date-parts":[[2012,11,21]],"date-time":"2012-11-21T02:46:07Z","timestamp":1353465967000},"page":"259-262","source":"Crossref","is-referenced-by-count":88,"title":["Prevalence of the <scp>E<\/scp>318<scp>K MITF<\/scp> germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history"],"prefix":"10.1111","volume":"26","author":[{"given":"P.","family":"Ghiorzo","sequence":"first","affiliation":[{"name":"Department of Internal Medicine and Medical Specialties University of Genoa Genoa Italy"},{"name":"Laboratory of Genetics of Rare Hereditary Cancers IRCCS AOU San Martino\u2010IST Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Pastorino","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Medical Specialties University of Genoa Genoa Italy"},{"name":"Laboratory of Genetics of Rare Hereditary Cancers IRCCS AOU San Martino\u2010IST Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Queirolo","sequence":"additional","affiliation":[{"name":"Medical Oncology Unit IRCCS AOU San Martino\u2010IST Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Bruno","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Medical Specialties University of Genoa Genoa Italy"},{"name":"Laboratory of Genetics of Rare Hereditary Cancers IRCCS AOU San Martino\u2010IST Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Tibiletti","sequence":"additional","affiliation":[{"name":"Unit of Pathology Department of Human Morphology University of Insubria\u2010Ospedale di Circolo Varese Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Nasti","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Medical Specialties University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Andreotti","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Medical Specialties University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genoa Pancreatic Cancer Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. Bressac\u2010de","family":"Paillerets","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Institute de Cancerologie Gustave Roussy Villejuif France"},{"name":"INSERM U946 Genetic Variation and Human Disease Unit Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Bianchi Scarr\u00e0","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Medical Specialties University of Genoa Genoa Italy"},{"name":"Laboratory of Genetics of Rare Hereditary Cancers IRCCS AOU San Martino\u2010IST Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10539"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.03.039"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/annonc\/mdg498"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl199"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100281"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2012.01549.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10630"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpcmr.12047","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12047","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T22:15:06Z","timestamp":1700604906000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12047"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,10]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1111\/pcmr.12047"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12047","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,10]]}}}