{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:55:57Z","timestamp":1778759757690,"version":"3.51.4"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2018,9,15]],"date-time":"2018-09-15T00:00:00Z","timestamp":1536969600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arch Dermatol Res"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1007\/s00403-018-1866-0","type":"journal-article","created":{"date-parts":[[2018,9,16]],"date-time":"2018-09-16T01:52:03Z","timestamp":1537062723000},"page":"769-784","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers"],"prefix":"10.1007","volume":"310","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7298-4446","authenticated-orcid":false,"given":"Laura Cristina","family":"Gironi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Colombo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Pasini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giorgione","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela","family":"Farinelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Zottarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elia","family":"Esposto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Zavattaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elias","family":"Allara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Ogliara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Betti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"Dianzani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Savoia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,9,15]]},"reference":[{"issue":"12","key":"1866_CR1","doi-asserted-by":"publisher","first-page":"856","DOI":"10.1136\/jmedgenet-2011-100156","volume":"48","author":"MH Abdel-Rahman","year":"2011","unstructured":"Abdel-Rahman MH, Pilarski R, Cebulla CM et al (2011) Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 48(12):856\u2013859","journal-title":"J Med Genet"},{"issue":"5","key":"1866_CR2","first-page":"231","volume":"5","author":"P Aguilera","year":"2014","unstructured":"Aguilera P, Malvehy J, Carrera C et al (2014) Clinical and histopathological characteristics between familial and sporadic melanoma in Barcelona, Spain. J Clin Exp Dermatol Res 5(5):231","journal-title":"J Clin Exp Dermatol Res"},{"issue":"5Suppl2","key":"1866_CR3","first-page":"28","volume":"40","author":"AIRTUM Working Group","year":"2016","unstructured":"AIRTUM Working Group (2016) The contribution of the Italian association of cancer registries (AIRTUM). Epidemiol Prev 40(5Suppl2):28\u201330","journal-title":"Epidemiol Prev"},{"issue":"36","key":"1866_CR4","doi-asserted-by":"publisher","first-page":"6199","DOI":"10.1200\/JCO.2009.23.4799","volume":"27","author":"CM Balch","year":"2009","unstructured":"Balch CM, Gershenwald JE, Soong SJ et al (2009) Final version of 2009 AJCC melanoma staging and classification. J Clin Oncol 27(36):6199\u20136206","journal-title":"J Clin Oncol"},{"key":"1866_CR5","doi-asserted-by":"publisher","first-page":"37","DOI":"10.4137\/CMO.S15239","volume":"8","author":"A Battaglia","year":"2014","unstructured":"Battaglia A (2014) The importance of multidisciplinary approach in early detection of BAP1 tumor predisposition syndrome: clinical management and risk assessment. Clin Med Insights Oncol 8:37\u201347","journal-title":"Clin Med Insights Oncol"},{"issue":"5","key":"1866_CR6","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1634\/theoncologist.8-5-459","volume":"8","author":"FC Beddingfield","year":"2003","unstructured":"Beddingfield FC (2003) The melanoma epidemic: res ipsa loquitor. Oncologist 8(5):459\u2013465","journal-title":"Oncologist"},{"key":"1866_CR7","doi-asserted-by":"crossref","unstructured":"Bertolotto C (2013) Melanoma: from melanocyte to genetic alterations and clinical options. Scientifica (Cairo) 2013:635203","DOI":"10.1155\/2013\/635203"},{"issue":"7375","key":"1866_CR8","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1038\/nature10539","volume":"480","author":"C Bertolotto","year":"2011","unstructured":"Bertolotto C, Lesueur F, Giuliano S et al (2011) A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 480(7375):94\u201398","journal-title":"Nature"},{"key":"1866_CR9","doi-asserted-by":"publisher","first-page":"a2249","DOI":"10.1136\/bmj.a2249","volume":"337","author":"V Betaille","year":"2008","unstructured":"Betaille V, de Vries E (2008) Melanoma\u2013Part 1: epidemiology, risk factors, and prevention. BMJ 337:a2249","journal-title":"BMJ"},{"issue":"2","key":"1866_CR10","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.canlet.2016.05.011","volume":"378","author":"M Betti","year":"2016","unstructured":"Betti M, Aspesi A, Biasi A et al (2016) CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. Cancer Lett 378(2):120\u2013130","journal-title":"Cancer Lett"},{"issue":"5","key":"1866_CR11","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1002\/ijc.27711","volume":"132","author":"F Bray","year":"2013","unstructured":"Bray F, Ren JS, Masuyer E, Ferlay J (2013) Global estimates of cancer prevalence for 27 sites in the adult population in 2008. Int J Cancer 132(5):1133\u20131145","journal-title":"Int J Cancer"},{"key":"1866_CR12","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1038\/nrc3459","volume":"13","author":"M Carbone","year":"2013","unstructured":"Carbone M, Yang H, Pass HI, Krausz T, Testa JR, Gaudino G (2013) BAP1 and cancer. Nat Rev Cancer 13:153\u2013159","journal-title":"Nat Rev Cancer"},{"issue":"10","key":"1866_CR13","doi-asserted-by":"publisher","first-page":"2384","DOI":"10.1158\/1055-9965.EPI-04-0777","volume":"14","author":"V Chaudru","year":"2005","unstructured":"Chaudru V, Laud K, Avril MF et al (2005) Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees. Cancer Epidemiol Biomarkers Prev 14(10):2384\u20132390","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"Suppl 7","key":"1866_CR14","doi-asserted-by":"publisher","first-page":"vii86","DOI":"10.1093\/annonc\/mds229","volume":"23","author":"R Dummer","year":"2012","unstructured":"Dummer R, Hauschild A, Guggenheim M et al (2012) Cutaneous melanoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 23(Suppl 7):vii86\u201391","journal-title":"Ann Oncol"},{"issue":"3","key":"1866_CR15","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1159\/000368775","volume":"230","author":"P Fava","year":"2015","unstructured":"Fava P, Astrua C, Chiarugi A et al (2015) Differences in clinicopathological features and distribution of risk factors in Italian melanoma patients. Dermatology 230(3):256\u2013262","journal-title":"Dermatology"},{"issue":"6","key":"1866_CR16","doi-asserted-by":"publisher","first-page":"1374","DOI":"10.1016\/j.ejca.2012.12.027","volume":"49","author":"J Ferlay","year":"2013","unstructured":"Ferlay J, Steliarova-Foucher E, Lortet-Tieulent J et al (2013) Cancer incidence and mortality patterns in Europe: estimates for 40 countries in 2012. Eur J Cancer 49(6):1374\u20131403","journal-title":"Eur J Cancer"},{"issue":"13","key":"1866_CR17","doi-asserted-by":"publisher","first-page":"1647","DOI":"10.1001\/jama.294.13.1647","volume":"294","author":"CR Ferrone","year":"2005","unstructured":"Ferrone CR, Ben Porat L, Panageas KS et al (2005) Clinicopathological features of and risk factors for multiple primary melanomas. JAMA 294(13):1647\u20131654","journal-title":"JAMA"},{"issue":"15","key":"1866_CR18","doi-asserted-by":"publisher","first-page":"2375","DOI":"10.1016\/j.ejca.2012.06.013","volume":"48","author":"C Garbe","year":"2012","unstructured":"Garbe C, Peris K, Hauschild A et al (2012) Diagnosis and treatment of melanoma. European consensus-based interdisciplinary guideline, Update 2012. Eur J Cancer 48(15):2375\u20132390","journal-title":"Eur J Cancer"},{"issue":"2","key":"1866_CR19","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1111\/pcmr.12047","volume":"26","author":"P Ghiorzo","year":"2013","unstructured":"Ghiorzo P, Pastorino L, Queirolo P et al (2013) Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. Pigment Cell Melanoma Res 26(2):259\u2013262","journal-title":"Pigment Cell Melanoma Res"},{"issue":"4","key":"1866_CR20","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1158\/1055-9965.EPI-12-1346","volume":"22","author":"AM Goldstein","year":"2013","unstructured":"Goldstein AM, Tucker MA (2013) Dysplastic nevi and melanoma. Cancer Epidemiol Biomarkers Prev 22(4):528\u2013532","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"8","key":"1866_CR21","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1136\/jmedgenet-2014-102320","volume":"51","author":"H Helgadottir","year":"2014","unstructured":"Helgadottir H, H\u00f6iom V, J\u00f6nsson G et al (2014) High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families. J Med Genet 51(8):545\u2013552","journal-title":"J Med Genet"},{"key":"1866_CR22","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1126\/science.1230062","volume":"339","author":"S Horn","year":"2013","unstructured":"Horn S, Figl A, Rachakonda PS et al (2013) TERT promoter mutations in familial and sporadic melanoma. Science 339:959\u2013961","journal-title":"Science"},{"key":"1866_CR23","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1126\/science.1229259","volume":"339","author":"FW Huang","year":"2013","unstructured":"Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA (2013) Highly recurrent TERT promoter mutations in human melanoma. Science 339:957\u2013959","journal-title":"Science"},{"issue":"1","key":"1866_CR24","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1007\/s10555-017-9661-5","volume":"36","author":"SA Leachman","year":"2017","unstructured":"Leachman SA, Lucero OM, Sampson JE et al (2017) Identification, genetic testing, and management of hereditary melanoma. Cancer Metastasis Rev 36(1):77\u201390","journal-title":"Cancer Metastasis Rev"},{"issue":"6","key":"1866_CR25","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1097\/00008390-200212000-00004","volume":"12","author":"A M\u00e5sb\u00e4ck","year":"2002","unstructured":"M\u00e5sb\u00e4ck A, Olsson H, Westerdahl J et al (2002) Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families. Melanoma Res 12(6):549\u2013557","journal-title":"Melanoma Res"},{"issue":"8","key":"1866_CR26","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1002\/humu.21504","volume":"32","author":"PJ Miller","year":"2011","unstructured":"Miller PJ, Duraisamy S, Newell JA et al (2011) Classifying variants of CDKN2A using computational and laboratory studies. Hum Mutat 32(8):900\u2013911","journal-title":"Hum Mutat"},{"issue":"6","key":"1866_CR27","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1111\/j.1755-148X.2008.00512.x","volume":"21","author":"L Pastorino","year":"2008","unstructured":"Pastorino L, Bonelli L, Ghiorzo P et al (2008) CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. Pigment Cell Melanoma Res 21(6):700\u2013709","journal-title":"Pigment Cell Melanoma Res"},{"issue":"3","key":"1866_CR28","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1097\/CMR.0000000000000323","volume":"27","author":"C Pellegrini","year":"2017","unstructured":"Pellegrini C, Maturo MG, Martorelli C et al (2017) Characterization of melanoma susceptibility genes in high-risk patients from Central Italy. Melanoma Res 27(3):258\u2013267","journal-title":"Melanoma Res"},{"issue":"5","key":"1866_CR29","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1097\/00008390-200510000-00001","volume":"15","author":"P Queirolo","year":"2005","unstructured":"Queirolo P, Acquati M, Kirkwood JM et al (2005) Update: current management issues in malignant melanoma. Melanoma Res 15(5):319\u2013324","journal-title":"Melanoma Res"},{"key":"1866_CR30","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1038\/ng.2947","volume":"46","author":"CD Robles-Espinoza","year":"2014","unstructured":"Robles-Espinoza CD, Harland M, Ramsay AJ et al (2014) POT1 loss-of-function variants predispose to familial melanoma. Nat Genet 46:478\u2013481","journal-title":"Nat Genet"},{"issue":"3","key":"1866_CR31","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1016\/j.jaad.2014.11.014","volume":"72","author":"MR Sargen","year":"2015","unstructured":"Sargen MR, Kanetsky PA, Newton-Bishop J et al (2015) Histologic features of melanoma associated with CDKN2A genotype. J Am Acad Dermatol 72(3):496\u2013507.e7","journal-title":"J Am Acad Dermatol"},{"issue":"7","key":"1866_CR32","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1111\/j.1468-3083.2011.04181.x","volume":"26","author":"P Savoia","year":"2012","unstructured":"Savoia P, Osella-Abate S, Deboli T et al (2012) Clinical and prognostic reports from 270 patients with multiple primary melanomas: a 34-year single-institution study. J Eur Acad Dermatol Venereol 26(7):882\u2013888","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"1866_CR33","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1038\/ng.2941","volume":"46","author":"J Shi","year":"2014","unstructured":"Shi J, Yang XR, Ballew B et al (2014) Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet 46:482\u2013486","journal-title":"Nat Genet"},{"issue":"3","key":"1866_CR34","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1016\/j.jaad.2015.08.038","volume":"74","author":"E Soura","year":"2016","unstructured":"Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H (2016) Hereditary melanoma: update on syndromes and management: genetics of familial atypical multiple mole melanoma syndrome. J Am Acad Dermatol 74(3):395\u2013407; quiz 408 \u2013 10","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"1866_CR35","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1016\/j.jaad.2015.08.037","volume":"74","author":"E Soura","year":"2016","unstructured":"Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H (2016) Hereditary melanoma: Update on syndromes and management: emerging melanoma cancer complexes and genetic counseling. J Am Acad Dermatol 74(3):411\u2013420; quiz 421-2","journal-title":"J Am Acad Dermatol"},{"issue":"5","key":"1866_CR36","doi-asserted-by":"publisher","first-page":"1066","DOI":"10.1016\/j.jid.2016.01.009","volume":"136","author":"NJ Taylor","year":"2016","unstructured":"Taylor NJ, Handorf EA, Mitra N et al (2016) Phenotypic and histopathological tumor characteristics according to CDKN2A mutation status among affected members of melanoma families. J Invest Dermatol 136(5):1066\u20131069","journal-title":"J Invest Dermatol"},{"key":"1866_CR37","doi-asserted-by":"publisher","first-page":"1118","DOI":"10.1001\/archderm.136.9.1118","volume":"136","author":"H Tsao","year":"2000","unstructured":"Tsao H, Zhang X, Kwitkiwski K, Finkelstein DM, Sober AJ, Haluska FG (2000) Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma. Arch Dermatol 136:1118\u20131122","journal-title":"Arch Dermatol"},{"issue":"3","key":"1866_CR38","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/j.hoc.2009.03.010","volume":"23","author":"MA Tucker","year":"2009","unstructured":"Tucker MA (2009) Melanoma epidemiology. Hematol Oncol Clin North Am 23(3):383\u2013395, vii","journal-title":"Hematol Oncol Clin North Am"},{"issue":"2","key":"1866_CR39","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.jaad.2010.06.044","volume":"65","author":"JI Rhee Van der","year":"2011","unstructured":"Van der Rhee JI, Krijnen P, Gruis NA et al (2011) Clinical and histologic characteristics of malignant melanoma in families with a germline mutation in CDKN2A. J Am Acad Dermatol 65(2):281\u2013288","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"1866_CR40","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1111\/cge.12501","volume":"88","author":"KA Wadt","year":"2015","unstructured":"Wadt KA, Aoude LG, Johansson P et al (2015) A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin Genet 88(3):267\u2013272","journal-title":"Clin Genet"}],"container-title":["Archives of Dermatological Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00403-018-1866-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00403-018-1866-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00403-018-1866-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,14]],"date-time":"2019-09-14T19:08:25Z","timestamp":1568488105000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00403-018-1866-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,15]]},"references-count":40,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["1866"],"URL":"https:\/\/doi.org\/10.1007\/s00403-018-1866-0","relation":{},"ISSN":["0340-3696","1432-069X"],"issn-type":[{"value":"0340-3696","type":"print"},{"value":"1432-069X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,15]]},"assertion":[{"value":"26 July 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 August 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 September 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 September 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"All authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study obtained approval from the Ethics Committee of our Institution (Comitato Etico Interaziendale, Azienda Ospedaliero Universitaria Maggiore della Carit\u00e0 di Novara, Italy).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval(Research involving Human Participants)"}},{"value":"Written informed consent for genetic analysis was obtained from all patients.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}