{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T16:50:32Z","timestamp":1770915032687,"version":"3.50.1"},"reference-count":35,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1155413"],"award-info":[{"award-number":["APP1155413"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1195581"],"award-info":[{"award-number":["APP1195581"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.jid.2023.02.014","type":"journal-article","created":{"date-parts":[[2023,2,28]],"date-time":"2023-02-28T11:05:37Z","timestamp":1677582337000},"page":"1610-1613","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Germline Variants in Childhood Cutaneous Melanoma"],"prefix":"10.1016","volume":"143","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7015-5452","authenticated-orcid":false,"given":"Peter A.","family":"Johansson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2702-522X","authenticated-orcid":false,"given":"Jane M.","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5899-1458","authenticated-orcid":false,"given":"Hayley R.","family":"Hamilton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2563-9559","authenticated-orcid":false,"given":"David C.","family":"Whiteman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5336-0454","authenticated-orcid":false,"given":"Antonia L.","family":"Pritchard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4760-1033","authenticated-orcid":false,"given":"Nicholas K.","family":"Hayward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jid.2023.02.014_bib1","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\u00a0Med Genet"},{"key":"10.1016\/j.jid.2023.02.014_bib2","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1093\/jnci\/91.5.446","article-title":"CDKN2A variants in a population-based sample of Queensland families with melanoma","volume":"91","author":"Aitken","year":"1999","journal-title":"J\u00a0Natl Cancer Inst"},{"key":"10.1016\/j.jid.2023.02.014_bib3","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1017\/thg.2015.12","article-title":"Prevalence of germline BAP1, CDKN2A, and CDK4 mutations in an Australian population-based sample of cutaneous melanoma cases","volume":"18","author":"Aoude","year":"2015","journal-title":"Twin Res Hum Genet"},{"key":"10.1016\/j.jid.2023.02.014_bib4","doi-asserted-by":"crossref","first-page":"dju408","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\u00a0Natl Cancer Inst"},{"key":"10.1016\/j.jid.2023.02.014_bib5","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1126\/science.1072047","article-title":"Recent segmental duplications in the human genome","volume":"297","author":"Bailey","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.jid.2023.02.014_bib6","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1093\/jnci\/dji312","article-title":"Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample","volume":"97","author":"Begg","year":"2005","journal-title":"J\u00a0Natl Cancer Inst"},{"key":"10.1016\/j.jid.2023.02.014_bib7","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/nature10539","article-title":"A\u00a0SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma","volume":"480","author":"Bertolotto","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.jid.2023.02.014_bib8","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1093\/jnci\/djaa047","article-title":"Germline MBD4\u00a0mutations and predisposition to uveal melanoma","volume":"113","author":"Derrien","year":"2021","journal-title":"J\u00a0Natl Cancer Inst"},{"key":"10.1016\/j.jid.2023.02.014_bib9","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1897-4287-12-20","article-title":"Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom","volume":"12","author":"Harland","year":"2014","journal-title":"Hered Cancer Clin Pract"},{"key":"10.1016\/j.jid.2023.02.014_bib10","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.jid.2023.02.014_bib11","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/ng0994-15","article-title":"Germline p16 mutations in familial melanoma","volume":"8","author":"Hussussian","year":"1994","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2023.02.014_bib12","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1158\/1055-9965.EPI-05-0793","article-title":"Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study","volume":"15","author":"Jenkins","year":"2006","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.jid.2023.02.014_bib13","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1111\/pcmr.12571","article-title":"Mutation load in\u00a0melanoma is affected by MC1R genotype","volume":"30","author":"Johansson","year":"2017","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1016\/j.jid.2023.02.014_bib14","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.jid.2023.02.014_bib15","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jid.2023.02.014_bib16","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/s41588-020-0611-8","article-title":"Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility","volume":"52","author":"Landi","year":"2020","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2023.02.014_bib17","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jid.2023.02.014_bib18","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jid.2023.02.014_bib19","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"10.1016\/j.jid.2023.02.014_bib20","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol"},{"key":"10.1016\/j.jid.2023.02.014_bib21","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1197-271","article-title":"Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer","volume":"17","author":"Miyaki","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2023.02.014_bib22","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1111\/pcmr.12804","article-title":"Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma","volume":"32","author":"Nathan","year":"2019","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1016\/j.jid.2023.02.014_bib23","doi-asserted-by":"crossref","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.jid.2023.02.014_bib24","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/jdv.17735","article-title":"Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients","volume":"36","author":"Pellegrini","year":"2022","journal-title":"J\u00a0Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.jid.2023.02.014_bib25","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1038\/ng0595-114","article-title":"Mutations associated with familial melanoma impair p16INK4 function","volume":"10","author":"Ranade","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.jid.2023.02.014_bib26","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.jid.2023.02.014_bib27","doi-asserted-by":"crossref","first-page":"12064","DOI":"10.1038\/ncomms12064","article-title":"Germline MC1R status influences somatic mutation burden in melanoma","volume":"7","author":"Robles-Espinoza","year":"2016","journal-title":"Nat Commun"},{"key":"10.1016\/j.jid.2023.02.014_bib35","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1182\/blood-2018-05-852566","article-title":"MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML","volume":"132","author":"Sanders","year":"2018","journal-title":"Blood"},{"key":"10.1016\/j.jid.2023.02.014_bib28","article-title":"Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort","author":"Simonin-Wilmer","year":"2022","journal-title":"J Med Genet"},{"key":"10.1016\/j.jid.2023.02.014_bib29","first-page":"564","article-title":"Melanoma and sunburn","volume":"5","author":"Whiteman","year":"1994","journal-title":"Cancer Causes Control"},{"key":"10.1016\/j.jid.2023.02.014_bib30","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1093\/jnci\/89.19.1460","article-title":"Germline CDKN2A mutations in childhood melanoma","volume":"89","author":"Whiteman","year":"1997","journal-title":"J\u00a0Natl Cancer Inst"},{"key":"10.1016\/j.jid.2023.02.014_bib31","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","article-title":"Identification of the breast cancer susceptibility gene BRCA2","volume":"378","author":"Wooster","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.jid.2023.02.014_bib32","doi-asserted-by":"crossref","first-page":"2865","DOI":"10.1093\/bioinformatics\/btp394","article-title":"Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads","volume":"25","author":"Ye","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jid.2023.02.014_bib33","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nature10630","article-title":"A\u00a0novel recurrent mutation in MITF predisposes to familial and sporadic melanoma","volume":"480","author":"Yokoyama","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.jid.2023.02.014_bib34","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng0196-97","article-title":"Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma","volume":"12","author":"Zuo","year":"1996","journal-title":"Nat Genet"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X23001550?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X23001550?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T21:52:46Z","timestamp":1762206766000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X23001550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":35,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S0022202X23001550"],"URL":"https:\/\/doi.org\/10.1016\/j.jid.2023.02.014","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Germline Variants in Childhood Cutaneous Melanoma","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jid.2023.02.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.","name":"copyright","label":"Copyright"}]}}