{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T19:58:16Z","timestamp":1774641496206,"version":"3.50.1"},"reference-count":55,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"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"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a significant role, involving a combination of high\u2010, intermediate\u2010 and low\u2010penetrance genes. Melanoma in children and adolescents has been speculated to have a stronger genetic component due to the early onset. This study investigates germline variants in early\u2010onset melanoma through exome sequencing of 154 patients in Australia diagnosed with cutaneous melanoma before the age of 20. Potentially pathogenic variants in shelterin complex genes were identified in 3% of the cases, consistent with a role for telomere dysregulation in early\u2010onset melanoma.\n                    <jats:italic>MC1R<\/jats:italic>\n                    R\u2010alleles, associated with red hair, fair skin and increased melanoma risk, were less frequent than in adult cases (0.46 vs. 0.64). Pathogenic germline variants in pigmentation genes linked to albinism were identified in 11 individuals (7%), including three truncating variants in\n                    <jats:italic>PMEL<\/jats:italic>\n                    , reinforcing the role of pigmentation pathways in cutaneous melanoma susceptibility. Two patients carried mutations in\n                    <jats:italic>MBD4<\/jats:italic>\n                    , suggesting it may contribute to early\u2010onset disease. The high frequency of rare variants in high\u2010 or intermediate\u2010risk genes highlights the importance of including such genes in genetic tests, as they may have implications for future risk in the adolescent patients and their at\u2010risk relatives.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.70079","type":"journal-article","created":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T04:41:09Z","timestamp":1770871269000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare Germline Variants in\n                    <i>CDKN2A<\/i>\n                    \u2010Negative Children and Adolescents With Cutaneous Melanoma"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7015-5452","authenticated-orcid":false,"given":"Peter A.","family":"Johansson","sequence":"first","affiliation":[{"name":"Oncogenomics Group QIMR Berghofer  Brisbane Queensland Australia"},{"name":"School of Biomedical Sciences University of Queensland  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane M.","family":"Palmer","sequence":"additional","affiliation":[{"name":"Oncogenomics Group QIMR Berghofer  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linh T.","family":"Bui\u2010Raborn","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai","family":"Xu","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristine M.","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research Frederick National Laboratory for Cancer Research  Frederick Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herbert","family":"Higson","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research Frederick National Laboratory for Cancer Research  Frederick Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"},{"name":"Cancer Genomics Research Laboratory, Leidos Biomedical Research Frederick National Laboratory for Cancer Research  Frederick Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly M.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Oncogenomics Group QIMR Berghofer  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia L.","family":"Pritchard","sequence":"additional","affiliation":[{"name":"Oncogenomics Group QIMR Berghofer  Brisbane Queensland Australia"},{"name":"Genetics and Immunology Department University of the Highlands and Islands  Inverness UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas K.","family":"Hayward","sequence":"additional","affiliation":[{"name":"Oncogenomics Group QIMR Berghofer  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin M.","family":"Brown","sequence":"additional","affiliation":[{"name":"Division of Cancer Epidemiology and Genetics, National Cancer 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R.Ossio E.Leddin et\u00a0al.2022.\u201cPopulation\u2010Based Analysis ofPOT1Variants in a Cutaneous Melanoma Case\u2010Control Cohort.\u201dmedRxiv. 2022.2005.2016.22274971.https:\/\/doi.org\/10.1101\/2022.05.16.22274971.","DOI":"10.1101\/2022.05.16.22274971"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2917"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195\u2010328"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djad248"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12006"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy171"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10630"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1508054"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196\u201097"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.70079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pcmr.70079","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.70079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T19:34:07Z","timestamp":1774640047000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.70079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,11]]},"references-count":55,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/pcmr.70079"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.70079","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,11]]},"assertion":[{"value":"2025-06-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70079"}}