{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:53:31Z","timestamp":1781650411099,"version":"3.54.5"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T00:00:00Z","timestamp":1776211200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"vor","delay-in-days":41,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hered Cancer Clin Pract"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Around 10% of children with cancer carry a germline pathogenic or likely pathogenic variant (P\/LPV) in one of the cancer predisposition genes. The objective of this study was to evaluate the frequency of genetic testing for hereditary cancer predisposition syndromes (HCPSs) among adults treated for childhood cancer in Slovenia and to characterize the P\/LPVs identified in those who opted for genetic testing. We also aimed to analyse how a positive genetic test influences cascade testing in blood relatives.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We included patients born between 1970 and 2000 who were diagnosed and treated for cancer between ages 0 \u2212\u200918 into this retrospective, descriptive, cross-sectional study. Data were collected from the Cancer Registry of the Republic of Slovenia, Long-term Follow-Up Clinic (LTFUC) and the Department of Clinical Cancer Genetics (DCCG) databases. The proportion of tested individuals was calculated with a 95% confidence interval (CI) using the Wald\u2019s method.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 1,475patients diagnosed and treated for cancer in childhood, 59 (4.0%; 95% CI: 3.0\u20135.0%) underwent genetic testing, with 35.6% (21\/59) testing positive. The P\/LPV were most frequently found in\n                      <jats:italic>RB1<\/jats:italic>\n                      ,\n                      <jats:italic>NF1<\/jats:italic>\n                      ,\n                      <jats:italic>RET<\/jats:italic>\n                      and\n                      <jats:italic>BRCA2<\/jats:italic>\n                      genes. In 61.9% (13\/21) of positive cases, an identified cancer predisposition syndrome was linked to the childhood cancer; in 95.2% (20\/21) it conferred an increased adult cancer risk. Among six patients with P\/LPV and second primary cancer (SPC), two had SPC with possible association with the HCPS. Cascade genetic testing was performed in 38.1% (8\/21) of positive families and was documented for 35 relatives of 8 carriers of P\/LPV. Overall, 60% (21\/35) of relatives were positive at genetic testing and 47.6% (10\/21) of developed cancer. In 90% (9\/10) of relatives the cancer could be linked to the HCPS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Only 4% of childhood cancer survivors underwent genetic testing for HCPS. Since hereditary cancer predisposition identified in childhood may also increase cancer risk in adulthood, universal cancer genetic counselling and testing should be considered in childhood to timely enable preventive options for early cancer detection and risk reduction procedures in carriers of P\/LPV. In parallel, cascade genetic testing among blood relatives may also offer preventive opportunities to those at risk.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13053-026-00341-2","type":"journal-article","created":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T17:04:50Z","timestamp":1776272690000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Importance of genetic testing in childhood cancer survivors for hereditary cancer predisposition syndromes"],"prefix":"10.1186","volume":"24","author":[{"given":"Anja","family":"Urbas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polona","family":"U\u0161aj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo\u0161tjan","family":"\u0160eruga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mateja","family":"Krajc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Hotujec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vida","family":"Stegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorna Zadravec","family":"Zaletel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,15]]},"reference":[{"key":"341_CR1","unstructured":"The Global Initiative for Childhood Cancer. https:\/\/www.who.int\/publications\/i\/item\/9789240025271. Accesed 21 Jul 2025."},{"issue":"6","key":"341_CR2","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/S1470-2045(17)30186-9","volume":"18","author":"E Steliarova-Foucher","year":"2017","unstructured":"Steliarova-Foucher E, Colombet M, Ries LAG, et al. International incidence of childhood cancer, 2001-10: a population-based registry study. Lancet Oncol. 2017;18(6):719\u201331. https:\/\/doi.org\/10.1016\/S1470-2045(17)30186-9.","journal-title":"Lancet Oncol"},{"key":"341_CR3","unstructured":"Munoz PA, Randi G, Vassal G, et al. Childhood cancers \u2013 Every child and adolescent deserves an equal chance. https:\/\/publications.jrc.ec.europa.eu\/repository\/handle\/JRC136059. Accesed 21 Jul 2025."},{"issue":"11","key":"341_CR4","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1158\/1078-0432.CCR-17-0702","volume":"23","author":"GM Brodeur","year":"2017","unstructured":"Brodeur GM, Nichols KE, Plon SE, et al. Pediatric cancer predisposition and surveillance: an overview, and a tribute to Alfred G. Knudson Jr. Clin Cancer Res Off J Am Assoc Cancer Res. 2017;23(11):e1\u20135. https:\/\/doi.org\/10.1158\/1078-0432.CCR-17-0702.","journal-title":"Clin Cancer Res Off J Am Assoc Cancer Res"},{"issue":"4","key":"341_CR5","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1002\/ajmg.a.38142","volume":"173","author":"T Ripperger","year":"2017","unstructured":"Ripperger T, Bielack SS, Borkhardt A, et al. Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. 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ERIDEK-0088\/2024, November 6, 2024), and the Committee for Scientific Review of Research Protocols (application no. ERID-KSOPR-0075\/2024, October 7, 2024). The Scientific Council of the Institute of Oncology Ljubljana granted final approval (application no. ERIDNPRA-0001\/2025, February 4, 2025). The study was conducted in accordance with the Declaration of Helsinki and relevant national and institutional regulations. Consent to participate was waived by the approving ethics committees due to the retrospective and pseudonymized nature of the data.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable. This manuscript does not contain any individual person\u2019s data in any form.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"11"}}