{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T21:53:07Z","timestamp":1780696387811,"version":"3.54.1"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,10,3]],"date-time":"2015-10-03T00:00:00Z","timestamp":1443830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2015,10,3]],"date-time":"2015-10-03T00:00:00Z","timestamp":1443830400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C588\/A19187"],"award-info":[{"award-number":["C588\/A19187"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C8216\/A6129"],"award-info":[{"award-number":["C8216\/A6129"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C8197\/A16565"],"award-info":[{"award-number":["C8197\/A16565"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RO1 CA83115"],"award-info":[{"award-number":["RO1 CA83115"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004622","name":"Dutch Cancer Society","doi-asserted-by":"crossref","award":["UL 2012-5489"],"award-info":[{"award-number":["UL 2012-5489"]}],"id":[{"id":"10.13039\/501100004622","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1007\/s10689-015-9841-9","type":"journal-article","created":{"date-parts":[[2015,10,3]],"date-time":"2015-10-03T03:40:14Z","timestamp":1443843614000},"page":"139-144","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["Germline TERT promoter mutations are rare in familial melanoma"],"prefix":"10.1007","volume":"15","author":[{"given":"Mark","family":"Harland","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mia","family":"Petljak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Daniela","family":"Robles-Espinoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihao","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelleke A.","family":"Gruis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remco","family":"van Doorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen A.","family":"Pooley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison M.","family":"Dunning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren G.","family":"Aoude","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin A. W.","family":"Wadt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Gerdes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas K.","family":"Hayward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia A.","family":"Newton-Bishop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Timothy","family":"Bishop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,10,3]]},"reference":[{"issue":"6122","key":"9841_CR1","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(6122):959\u2013961","journal-title":"Science"},{"issue":"14","key":"9841_CR2","doi-asserted-by":"publisher","first-page":"2040","DOI":"10.1016\/j.ejca.2005.03.034","volume":"41","author":"S Gandini","year":"2005","unstructured":"Gandini S, Sera F, Cattaruzza MS et al (2005) Meta-analysis of risk factors for cutaneous melanoma: III. Family history, actinic damage and phenotypic factors. Eur J Cancer 41(14):2040\u20132059","journal-title":"Eur J Cancer"},{"issue":"1","key":"9841_CR3","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1016\/j.ejca.2004.10.015","volume":"41","author":"S Gandini","year":"2005","unstructured":"Gandini S, Sera F, Cattaruzza MS et al (2005) Meta-analysis of risk factors for cutaneous melanoma: I. Common and atypical naevi. Eur J Cancer 41(1):28\u201344","journal-title":"Eur J Cancer"},{"issue":"11","key":"9841_CR4","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1038\/ng.959","volume":"43","author":"JH Barrett","year":"2011","unstructured":"Barrett JH, Iles MM, Harland M et al (2011) Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet 43(11):1108\u20131113","journal-title":"Nat Genet"},{"issue":"2","key":"9841_CR5","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1136\/jmg.2006.043802","volume":"44","author":"AM Goldstein","year":"2007","unstructured":"Goldstein AM, Chan M, Harland M et al (2007) Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 44(2):99\u2013106","journal-title":"J Med Genet"},{"issue":"8","key":"9841_CR6","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"},{"issue":"5","key":"9841_CR7","doi-asserted-by":"publisher","first-page":"888","DOI":"10.1016\/j.jaad.2014.06.036","volume":"71","author":"M Potrony","year":"2014","unstructured":"Potrony M, Puig-Butill\u00e9 JA, Aguilera P et al (2014) Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling. J Am Acad Dermatol 71(5):888\u2013895","journal-title":"J Am Acad Dermatol"},{"issue":"4","key":"9841_CR8","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1136\/jmedgenet-2012-101455","volume":"50","author":"HE Puntervoll","year":"2013","unstructured":"Puntervoll HE, Yang XR, Vetti HH et al (2013) Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J Med Genet 50(4):264\u2013270","journal-title":"J Med Genet"},{"key":"9841_CR9","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1186\/1479-5876-10-179","volume":"10","author":"M Carbone","year":"2012","unstructured":"Carbone M, Ferris LK, Baumann F et al (2012) BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med 10:179","journal-title":"J Transl Med"},{"issue":"6009","key":"9841_CR10","doi-asserted-by":"publisher","first-page":"1410","DOI":"10.1126\/science.1194472","volume":"330","author":"JW Harbour","year":"2010","unstructured":"Harbour JW, Onken MD, Roberson ED et al (2010) Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 330(6009):1410\u20131413","journal-title":"Science"},{"issue":"5","key":"9841_CR11","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(5):478\u2013481","journal-title":"Nat Genet"},{"issue":"5","key":"9841_CR12","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(5):482\u2013486","journal-title":"Nat Genet"},{"issue":"8","key":"9841_CR13","doi-asserted-by":"publisher","first-page":"e71121","DOI":"10.1371\/journal.pone.0071121","volume":"8","author":"LS Burke","year":"2013","unstructured":"Burke LS, Hyland PL, Pfeiffer RM et al (2013) Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations. PLoS One 8(8):e71121","journal-title":"PLoS One"},{"issue":"2","key":"9841_CR14","doi-asserted-by":"publisher","first-page":"dju408","DOI":"10.1093\/jnci\/dju408","volume":"107","author":"LG Aoude","year":"2015","unstructured":"Aoude LG, Pritchard AL, Robles-Espinoza CD et al (2015) Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. J Natl Cancer Inst 107(2):dju408","journal-title":"J Natl Cancer Inst"},{"issue":"6122","key":"9841_CR15","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(6122):957\u2013959","journal-title":"Science"},{"issue":"10","key":"9841_CR16","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1093\/jnci\/dju267","volume":"106","author":"MM Iles","year":"2014","unstructured":"Iles MM, Bishop DT, Taylor JC et al (2014) The effect on melanoma risk of genes previously associated with telomere length. J Natl Cancer Inst 106(10):dju267","journal-title":"J Natl Cancer Inst"},{"issue":"8","key":"9841_CR17","doi-asserted-by":"publisher","first-page":"2043","DOI":"10.1158\/1055-9965.EPI-10-0233","volume":"19","author":"JA Newton-Bishop","year":"2010","unstructured":"Newton-Bishop JA, Chang YM, Iles MM et al (2010) Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom. Cancer Epidemiol Biomark Prev 19(8):2043\u20132054","journal-title":"Cancer Epidemiol Biomark Prev"},{"key":"9841_CR18","unstructured":"Purcell S, Chang C. PLINK 1.9. Secondary PLINK 1.9. \n                    http:\/\/www.cog-genomics.org\/plink2"},{"issue":"9","key":"9841_CR19","doi-asserted-by":"publisher","first-page":"e75","DOI":"10.1093\/nar\/gku181","volume":"42","author":"Z Ding","year":"2014","unstructured":"Ding Z, Mangino M, Aviv A, Spector T, Durbin R, Consortium UK (2014) Estimating telomere length from whole genome sequence data. Nucleic Acids Res 42(9):e75","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"9841_CR20","doi-asserted-by":"publisher","first-page":"3170","DOI":"10.1158\/0008-5472.CAN-09-4595","volume":"70","author":"KA Pooley","year":"2010","unstructured":"Pooley KA, Sandhu MS, Tyrer J et al (2010) Telomere length in prospective and retrospective cancer case-control studies. Cancer Res 70(8):3170\u20133176","journal-title":"Cancer Res"},{"issue":"11","key":"9841_CR21","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1038\/ng.3101","volume":"46","author":"N Weinhold","year":"2014","unstructured":"Weinhold N, Jacobsen A, Schultz N, Sander C, Lee W (2014) Genome-wide analysis of noncoding regulatory mutations in cancer. Nat Genet 46(11):1160\u20131165","journal-title":"Nat Genet"},{"issue":"10","key":"9841_CR22","doi-asserted-by":"publisher","first-page":"1466","DOI":"10.1016\/j.ejca.2006.02.014","volume":"42","author":"CP Hsu","year":"2006","unstructured":"Hsu CP, Hsu NY, Lee LW, Ko JL (2006) Ets2 binding site single nucleotide polymorphism at the hTERT gene promoter\u2013effect on telomerase expression and telomere length maintenance in non-small cell lung cancer. Eur J Cancer 42(10):1466\u20131474","journal-title":"Eur J Cancer"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-015-9841-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-015-9841-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-015-9841-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-015-9841-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T06:52:23Z","timestamp":1589439143000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-015-9841-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,3]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["9841"],"URL":"https:\/\/doi.org\/10.1007\/s10689-015-9841-9","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,3]]},"assertion":[{"value":"3 October 2015","order":1,"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":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}