{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:40:41Z","timestamp":1792039241734,"version":"4.4.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes.\n                    <jats:italic>TRIM28<\/jats:italic>\n                    has recently been identified as one such gene. Previously, observational data strongly suggested a parent of origin effect, whereby Wilms tumour only occurred following maternal inheritance of a pathogenic genetic variant. However, here we report a child with bilateral Wilms tumour who had inherited a pathogenic\n                    <jats:italic>TRIM28<\/jats:italic>\n                    variant from their father. This finding suggests that genetic counselling for paternally inherited pathogenic variants in\n                    <jats:italic>TRIM28<\/jats:italic>\n                    should include discussion of a potential risk of Wilms tumour.\n                  <\/jats:p>","DOI":"10.1038\/s41431-024-01545-7","type":"journal-article","created":{"date-parts":[[2024,1,28]],"date-time":"2024-01-28T23:42:10Z","timestamp":1706485330000},"page":"361-364","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant\u2014A first report"],"prefix":"10.1038","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3682-2298","authenticated-orcid":false,"given":"James","family":"Whitworth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R.","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,29]]},"reference":[{"key":"1545_CR1","doi-asserted-by":"crossref","unstructured":"Rivera MN, Haber DA. Wilms\u2019 tumour: connecting tumorigenesis and organ development in the kidney. Nat Rev Cancer. 2005;5:699\u2013712. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16110318","DOI":"10.1038\/nrc1696"},{"key":"1545_CR2","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1126\/science.aax1323","volume":"366","author":"THH Coorens","year":"2019","unstructured":"Coorens THH, Treger TD, Al-Saadi R, Moore L, Tran MGB, Mitchell TJ, et al. Embryonal precursors of Wilms tumor. Sci [Internet]. 2019;366:1247\u201351. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31806814","journal-title":"Sci [Internet]"},{"key":"1545_CR3","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.ejca.2021.05.014","volume":"153","author":"JA Hol","year":"2021","unstructured":"Hol JA, Jewell R, Chowdhury T, Duncan C, Nakata K, Oue T, et al. Wilms tumour surveillance in at-risk children: literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group. Eur J Cancer [Internet]. 2021;153:51\u201363. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34134020","journal-title":"Eur J Cancer [Internet]"},{"key":"1545_CR4","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/nrendo.2017.166","volume":"14","author":"F Brioude","year":"2018","unstructured":"Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol [Internet]. 2018;14:229\u201349. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29377879","journal-title":"Nat Rev Endocrinol [Internet]"},{"key":"1545_CR5","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/S2352-4642(19)30018-5","volume":"3","author":"S Mahamdallie","year":"2019","unstructured":"Mahamdallie S, Yost S, Poyastro-Pearson E, Holt E, Zachariou A, Seal S, et al. Identification of new Wilms tumour predisposition genes: an exome sequencing study. Lancet Child Adolesc Heal. 2019;3:322\u201331.","journal-title":"Lancet Child Adolesc Heal"},{"key":"1545_CR6","doi-asserted-by":"publisher","first-page":"e1007399","DOI":"10.1371\/journal.pgen.1007399","volume":"14","author":"BJ Halliday","year":"2018","unstructured":"Halliday BJ, Fukuzawa R, Markie DM, Grundy RG, Ludgate JL, Black MA, et al. Germline mutations and somatic inactivation of TRIM28 in Wilms tumour. PLoS Genet [Internet]. 2018;14:e1007399. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29912901","journal-title":"PLoS Genet [Internet]"},{"key":"1545_CR7","doi-asserted-by":"publisher","first-page":"e0208936","DOI":"10.1371\/journal.pone.0208936","volume":"13","author":"AE Armstrong","year":"2018","unstructured":"Armstrong AE, Gadd S, Huff V, Gerhard DS, Dome JS, Perlman EJ. A unique subset of low-risk Wilms tumors is characterized by loss of function of TRIM28 (KAP1), a gene critical in early renal development: a children\u2019s oncology group study. PLoS One [Internet]. 2018;13:e0208936. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30543698","journal-title":"PLoS One [Internet]"},{"key":"1545_CR8","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1002\/ijc.32167","volume":"145","author":"IJ Diets","year":"2019","unstructured":"Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, et al. TRIM28 haploinsufficiency predisposes to Wilms tumor. Int J Cancer [Internet]. 2019;145:941\u201351. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30694527","journal-title":"Int J Cancer [Internet]"},{"key":"1545_CR9","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1002\/path.5639","volume":"254","author":"JA Hol","year":"2021","unstructured":"Hol JA, Diets IJ, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MC, Kuiper RP. TRIM28 variants and Wilms\u2019 tumour predisposition. J Pathol [Internet]. 2021;254:494\u2013504. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33565090","journal-title":"J Pathol [Internet]"},{"key":"1545_CR10","doi-asserted-by":"crossref","unstructured":"Moore C, Monforte H, Teer JK, Zhang Y, Yoder S, Brohl AS, et al. TRIM28 congenital predisposition to Wilms\u2019 tumor: novel mutations and presentation in a sibling pair. Cold Spring Harb Mol case Stud. 2020;6. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32699065","DOI":"10.1101\/mcs.a004796"},{"key":"1545_CR11","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/path.6206","volume":"262","author":"J Wegert","year":"2024","unstructured":"Wegert J, Fischer AK, Palhazi B, Treger TD, Hilgers C, Ziegler B, et al. TRIM28 inactivation in epithelial nephroblastoma is frequent and often associated with predisposing TRIM28 germline variants. J Pathol [Internet]. 2024;262:10\u201321. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37792584","journal-title":"J Pathol [Internet]"},{"key":"1545_CR12","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1186\/s12929-017-0374-4","volume":"24","author":"P Czerwi\u0144ska","year":"2017","unstructured":"Czerwi\u0144ska P, Mazurek S, Wiznerowicz M. The complexity of TRIM28 contribution to cancer. J Biomed Sci [Internet]. 2017;24:63. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28851455","journal-title":"J Biomed Sci [Internet]"},{"key":"1545_CR13","doi-asserted-by":"publisher","first-page":"13951","DOI":"10.1038\/srep13951","volume":"5","author":"GH Dihazi","year":"2015","unstructured":"Dihazi GH, Jahn O, Tampe B, Zeisberg M, M\u00fcller C, M\u00fcller GA, et al. Proteomic analysis of embryonic kidney development: Heterochromatin proteins as epigenetic regulators of nephrogenesis. Sci Rep. [Internet]. 2015;5:13951. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26359909","journal-title":"Sci Rep. [Internet]"},{"key":"1545_CR14","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1038\/s41572-023-00443-4","volume":"9","author":"T Eggermann","year":"2023","unstructured":"Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A, et al. Imprinting disorders. Nat Rev Dis Prim [Internet]. 2023;9:33. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37386011","journal-title":"Nat Rev Dis Prim [Internet]"},{"key":"1545_CR15","doi-asserted-by":"publisher","first-page":"848","DOI":"10.1126\/science.287.5454.848","volume":"287","author":"BE Baysal","year":"2000","unstructured":"Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Sci [Internet]. 2000;287:848\u201351. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/10657297","journal-title":"Sci [Internet]"},{"key":"1545_CR16","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1038\/ng.861","volume":"43","author":"I Comino-M\u00e9ndez","year":"2011","unstructured":"Comino-M\u00e9ndez I, Gracia-azn\u00e1rez FJ, Schiavi F, Landa I, Leandro-garc\u00eda LJ, Let\u00f3n R, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet. 2011;43:663\u20137.","journal-title":"Nat Genet"},{"key":"1545_CR17","doi-asserted-by":"publisher","first-page":"reports2009","DOI":"10.1186\/gb-2001-2-8-reports2009","volume":"2","author":"V Ginjala","year":"2001","unstructured":"Ginjala V. Gene imprinting gateway. Genome Biol [Internet]. 2001;2:reports2009. https:\/\/genomebiology.biomedcentral.com\/articles\/10.1186\/gb-2001-2-8-reports2009","journal-title":"Genome Biol [Internet]"},{"key":"1545_CR18","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.tig.2005.06.008","volume":"21","author":"IM Morison","year":"2005","unstructured":"Morison IM, Ramsay JP, Spencer HG. A census of mammalian imprinting. Trends Genet [Internet]. 2005;21:457\u201365. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15990197","journal-title":"Trends Genet [Internet]"},{"key":"1545_CR19","doi-asserted-by":"crossref","unstructured":"Hensen EF, Jordanova ES, van Minderhout IJHM, Hogendoorn PCW, Taschner PEM, van der Mey AGL, et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene [Internet]. 2004;23:4076\u201383. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15064708","DOI":"10.1038\/sj.onc.1207591"},{"key":"1545_CR20","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1046\/j.1365-2443.2001.00412.x","volume":"6","author":"T Kohda","year":"2001","unstructured":"Kohda T, Asai A, Kuroiwa Y, Kobayashi S, Aisaka K, Nagashima G, et al. Tumour suppressor activity of human imprinted gene PEG3 in a glioma cell line. Genes Cells [Internet]. 2001;6:237\u201347. http:\/\/doi.wiley.com\/10.1046\/j.1365-2443.2001.00412.x.","journal-title":"Genes Cells [Internet]"},{"key":"1545_CR21","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1016\/j.stemcr.2020.03.013","volume":"14","author":"JHL Tan","year":"2020","unstructured":"Tan JHL, Wollmann H, van Pelt AMM, Kaldis P, Messerschmidt DM. Infertility-causing haploinsufficiency reveals TRIM28\/KAP1 requirement in spermatogonia. Stem Cell Rep. [Internet]. 2020;14:818\u201327. http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32302554","journal-title":"Stem Cell Rep. [Internet]"},{"key":"1545_CR22","unstructured":"Genomics England. Genomics England Newborn Genomes Programme Conditions List [Internet]. 2023 [cited 2023 Nov 14]. Available from: https:\/\/www.genomicsengland.co.uk\/initiatives\/newborns\/choosing-conditions\/conditions-list-generation-study."}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01545-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01545-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01545-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T19:03:29Z","timestamp":1709924609000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01545-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,29]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["1545"],"URL":"https:\/\/doi.org\/10.1038\/s41431-024-01545-7","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3616311\/v1","asserted-by":"object"}]},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,29]]},"assertion":[{"value":"15 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 January 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 January 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The Molecular Pathology of Human Genetic Disease study is approved by the South Birmingham Research Ethics Committee.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}