{"data":{"id":"10.6084/m9.figshare.3427172","type":"dois","attributes":{"doi":"10.6084/m9.figshare.3427172","prefix":"10.6084","suffix":"m9.figshare.3427172","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Theruvath, Johanna","nameType":"Personal","givenName":"Johanna","familyName":"Theruvath","affiliation":[],"nameIdentifiers":[]},{"name":"Russo, Alexandra","nameType":"Personal","givenName":"Alexandra","familyName":"Russo","affiliation":[],"nameIdentifiers":[]},{"name":"Kron, Bettina","nameType":"Personal","givenName":"Bettina","familyName":"Kron","affiliation":[],"nameIdentifiers":[]},{"name":"Paret, Claudia","nameType":"Personal","givenName":"Claudia","familyName":"Paret","affiliation":[],"nameIdentifiers":[]},{"name":"Wingerter, Arthur","nameType":"Personal","givenName":"Arthur","familyName":"Wingerter","affiliation":[],"nameIdentifiers":[]},{"name":"Khalifa El Malki","affiliation":[],"nameIdentifiers":[]},{"name":"Neu, Marie A.","nameType":"Personal","givenName":"Marie A.","familyName":"Neu","affiliation":[],"nameIdentifiers":[]},{"name":"Alt, Francesca","nameType":"Personal","givenName":"Francesca","familyName":"Alt","affiliation":[],"nameIdentifiers":[]},{"name":"Staatz, Gundula","nameType":"Personal","givenName":"Gundula","familyName":"Staatz","affiliation":[],"nameIdentifiers":[]},{"name":"Stein, Raimund","nameType":"Personal","givenName":"Raimund","familyName":"Stein","affiliation":[],"nameIdentifiers":[]},{"name":"Seidmann, Larissa","nameType":"Personal","givenName":"Larissa","familyName":"Seidmann","affiliation":[],"nameIdentifiers":[]},{"name":"Prawitt, Dirk","nameType":"Personal","givenName":"Dirk","familyName":"Prawitt","affiliation":[],"nameIdentifiers":[]},{"name":"Faber, Jörg","nameType":"Personal","givenName":"Jörg","familyName":"Faber","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma"}],"publisher":"Taylor \u0026 Francis","container":{},"publicationYear":2016,"subjects":[{"subject":"29999 Physical Sciences not elsewhere classified","subjectScheme":"FOR"},{"subject":"FOS: Physical sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Physical sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Biological sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Molecular Biology"},{"subject":"Neuroscience"},{"subject":"69999 Biological Sciences not elsewhere classified","subjectScheme":"FOR"},{"subject":"80699 Information Systems not elsewhere classified","subjectScheme":"FOR"},{"subject":"FOS: Computer and information sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Computer and information sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Cancer"},{"subject":"60506 Virology","subjectScheme":"FOR"},{"subject":"Computational Biology"}],"contributors":[],"dates":[{"date":"2016-06-10","dateType":"Created"},{"date":"2016-06-10","dateType":"Updated"},{"date":"2016","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsSupplementTo","relatedIdentifier":"10.1080/08880018.2016.1184362","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":["141315 Bytes"],"formats":[],"version":null,"rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"Although neuro- and nephroblastoma are common solid tumors in children, the simultaneous occurrence is very rare and is often associated with syndromes. Here, we present a unique case of synchronous occurrence of neuro- and nephroblastoma in an infant with no signs of congenital anomalies or a syndrome. We performed genetic testing for possible candidate genes as underlying mutation using the next-generation sequencing (NGS) approach to target 94 genes and 284 single-nucleotide polymorphisms (SNPs) involved in cancer. We uncovered a novel heterozygous germline missense mutation p.F58L (c.172T→C) in the anaplastic lymphoma kinase (\u003ci\u003eALK\u003c/i\u003e) gene and one novel heterozygous rearrangement Q418Hfs\u003csup\u003e*\u003c/sup\u003e11 (c.1254_1264delins TTACTTAGTACAAGAACTG) in the Fanconi anemia gene \u003ci\u003eFANCD2\u003c/i\u003e leading to a truncated protein. Besides, several SNPs associated with the occurrence of neuroblastoma and/or nephroblastoma or multiple primary tumors were identified. The next-generation sequencing approach might in the future be useful not only in understanding tumor etiology but also in recognizing new genetic markers and targets for future personalized therapy.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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