{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:49:22Z","timestamp":1774561762180,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T00:00:00Z","timestamp":1681862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this retrospective study, we examined the prevalence and spectrum of germline variants in selected cancer predisposition genes in 38 children and young adults with melanocytic lesions at St. Jude Children's Research Hospital. Diagnoses included malignant melanoma (<jats:italic>n<\/jats:italic>\u00a0=\u00a016; 42%), spitzoid melanoma (<jats:italic>n<\/jats:italic>\u00a0=\u00a016; 42%), uveal melanoma (<jats:italic>n<\/jats:italic>\u00a0=\u00a05; 13%), and malignant melanoma arising in a giant congenital melanocytic nevus (<jats:italic>n<\/jats:italic>\u00a0=\u00a01; 3%). Six patients (15.8%) harbored pathogenic germline variants: one with bi\u2010allelic <jats:italic>PMS2<\/jats:italic> variants, one with a heterozygous 17q21.31 deletion, and one each with a pathogenic variant in <jats:italic>TP53, BRIP1, ATM<\/jats:italic>, or <jats:italic>AXIN2<\/jats:italic>. Overall, 15.8% of patients harbored a cancer\u2010predisposing genetic variant.<\/jats:p>","DOI":"10.1002\/pbc.30361","type":"journal-article","created":{"date-parts":[[2023,4,19]],"date-time":"2023-04-19T08:29:40Z","timestamp":1681892980000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Germline genomic findings in children and young adults with melanocytic tumors"],"prefix":"10.1002","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7792-1252","authenticated-orcid":false,"given":"Margaret B.","family":"Nagel","sequence":"first","affiliation":[{"name":"Department of Oncology St. Jude Children's Hospital Memphis  Memphis Tennessee USA"},{"name":"Department of Pediatrics UT Southwestern Medical Center Dallas  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa R.","family":"Perrino","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Hospital Memphis  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Nuccio","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Hospital Memphis  Memphis Tennessee USA"},{"name":"Regina Nuccio current address: Concert Genetics  Nashville TN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alise K.","family":"Blake","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Hospital Memphis  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Harrison","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Hospital Memphis  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5581-6555","authenticated-orcid":false,"given":"Kim E.","family":"Nichols","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Hospital Memphis  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5338-3979","authenticated-orcid":false,"given":"Alberto S.","family":"Pappo","sequence":"additional","affiliation":[{"name":"Department of Oncology St. Jude Children's Hospital Memphis  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.13689"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx368"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2020.12.005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.178"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1837"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1158\/1940-6207.CAPR-20-0448"},{"key":"e_1_2_7_8_1","unstructured":"NCCN Clinical Practice Guidelines in Oncology: Genetic\/Familial High\u2010Risk Assessment: Breast and Ovarian Version 3.NCCN;2019."},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25983"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-15-2717"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.2217\/fon-2015-0022"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2015.5699"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1508054"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(11)70119-X"},{"key":"e_1_2_7_15_1","volume-title":"GeneReviews","author":"Schneider K","year":"2019"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107627"},{"key":"e_1_2_7_17_1","volume-title":"GeneReviews","author":"Koolen DA","year":"2010"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-17-0574"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01240-8"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22363"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20567"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17735"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.30361","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T12:57:49Z","timestamp":1692536269000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.30361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,19]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/pbc.30361"],"URL":"https:\/\/doi.org\/10.1002\/pbc.30361","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,19]]},"assertion":[{"value":"2022-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e30361"}}