{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T21:43:01Z","timestamp":1792618981620,"version":"4.5.0"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 CA151284"],"award-info":[{"award-number":["R01 CA151284"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 CA267938"],"award-info":[{"award-number":["R01 CA267938"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["CAU10CA180886"],"award-info":[{"award-number":["CAU10CA180886"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U10CA180899"],"award-info":[{"award-number":["U10CA180899"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Germ cell tumors are heterogeneous neoplasms arising from primordial germ cells. Although genome-wide association studies have identified numerous susceptibility loci for adult testicular germ cell tumors, the heritable basis of pediatric testicular germ cell tumors and germ cell tumors that arise outside the testes remain poorly understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a multi-ancestry genome-wide association study of pediatric germ cell tumors, including 1927 cases from the Germ Cell Tumor Epidemiology Study and 10\u2009601 controls. Cases were diagnosed with testicular (n\u2009=\u2009678), ovarian (n\u2009=\u2009441), intracranial (n\u2009=\u2009435), and extragonadal (n\u2009=\u2009373) germ cell tumor between the ages of 0 and 19\u2009years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 4 loci reaching genome-wide significance, including variants near BAK1 (chr 6: rs3831846), SPRY4 (chr 5: rs12515244), DMRT1 (chromosome [chr] 9: rs10815910), and DEPTOR (chr 8: rs13277786). Additional genome-wide statistically significant associations were identified in subgroup analyses, including 6 loci for intracranial germ cell tumors (rs2758612 [PMF1\/BGLAP], rs9854760 [PLCL2], rs6851498 [KIT], rs11816992 on chromosome 10, rs3830273 [TFAM], and rs13054014 [LZTR1]), 1 locus for testicular germ cell tumor (rs1907702 [KITLG]), and 1 locus for males (rs4610628 [MAD1L1]). After Bonferroni correction, 18 of 78 previously reported testicular germ cell tumor loci were significantly associated with germ cell tumor overall or in at least 1 subgroup with a particularly strong correlation between testicular germ cell tumor and intracranial germ cell tumor effect estimates (rho\u2009=\u20090.63, P\u2009=\u20095.5 \u00d7 10\u221210). Expression quantitative trait locus (QTL) analyses identified candidate genes in the regions identified on chromosome 6 (BAK1, LINC003366, and ITPR3) and chromosome 8 (DEPTOR and RP11-760H22.2).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our data support a role for germline genetic variation in the development of germ cell tumors in locations outside the testes and highlight shared genetic architecture across age group and tumor location.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/jnci\/djag097","type":"journal-article","created":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T12:47:09Z","timestamp":1774702029000},"page":"1657-1669","source":"Crossref","is-referenced-by-count":1,"title":["Overlapping genetic etiology of pediatric and adult germ cell tumors"],"prefix":"10.1093","volume":"118","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1430-8455","authenticated-orcid":false,"given":"Shannon M","family":"Sullivan","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Division of Molecular Pathology and Genomics, University of Minnesota , Minneapolis, MN,","place":["United States"]},{"name":"Masonic Cancer Center, University of Minnesota , Minneapolis, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3582-5825","authenticated-orcid":false,"given":"John","family":"Lane","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, Division of Computational Biology, University of Minnesota , Minneapolis, MN,","place":["United 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Epidemiology and Clinical Research, University of Minnesota , Minneapolis, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1176-8272","authenticated-orcid":false,"given":"Joanna J","family":"Gell","sequence":"additional","affiliation":[{"name":"Center for Cancer and Blood Disorders, Connecticut Children\u2019s Medical Center , Hartford, CT,","place":["United States"]},{"name":"The Jackson Laboratory for Genomic Medicine , Framingham, CT,","place":["United States"]},{"name":"Department of Pediatrics, University of Connecticut , Farmington, CT,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Krailo","sequence":"additional","affiliation":[{"name":"Keck School of Medicine, University of Southern California , Los Angeles, CA,","place":["United 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Biology, University of Minnesota , Minneapolis, MN,","place":["United States"]},{"name":"Masonic Cancer Center, University of Minnesota , Minneapolis, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8460-3938","authenticated-orcid":false,"given":"Jenny N","family":"Poynter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Epidemiology and Clinical Research, University of Minnesota , Minneapolis, MN,","place":["United States"]},{"name":"Masonic Cancer Center, University of Minnesota , Minneapolis, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,3,30]]},"reference":[{"key":"2026090719573317700_djag097-B1","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/s41568-019-0178-9","article-title":"Human germ cell tumours from a developmental 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