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FältnamnIndikatorerMetadata
00008881naa a2200973 4500
001oai:DiVA.org:uu-506579
003SwePub
008230628s2023 | |||||||||||000 ||eng|
009oai:DiVA.org:umu-209147
009oai:lup.lub.lu.se:74d36791-53c9-434d-a95b-45417711cba9
009oai:prod.swepub.kib.ki.se:152835602
009oai:gup.ub.gu.se/329408
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5065792 URI
0247 a https://doi.org/10.1186/s12967-023-04178-42 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-2091472 URI
0247 a https://lup.lub.lu.se/record/74d36791-53c9-434d-a95b-45417711cba92 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1528356022 URI
0247 a https://gup.ub.gu.se/publication/3294082 URI
040 a (SwePub)uud (SwePub)umud (SwePub)lud (SwePub)kid (SwePub)gu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a de Ståhl, Teresita Diazu Karolinska Institutet,Karolinska Institute,Karolinska University Hospital4 aut
2451 0a The Swedish childhood tumor biobank :b systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden
264 1b BioMed Central (BMC),c 2023
338 a electronic2 rdacarrier
520 a The Swedish Childhood Tumor Biobank (BTB) is a nonprofit national infrastructure for collecting tissue samples and genomic data from pediatric patients diagnosed with central nervous system (CNS) and other solid tumors. The BTB is built on a multidisciplinary network established to provide the scientific community with standardized biospecimens and genomic data, thereby improving knowledge of the biology, treatment and outcome of childhood tumors. As of 2022, over 1100 fresh-frozen tumor samples are available for researchers. We present the workflow of the BTB from sample collection and processing to the generation of genomic data and services offered. To determine the research and clinical utility of the data, we performed bioinformatics analyses on next-generation sequencing (NGS) data obtained from a subset of 82 brain tumors and patient blood-derived DNA combined with methylation profiling to enhance the diagnostic accuracy and identified germline and somatic alterations with potential biological or clinical significance. The BTB procedures for collection, processing, sequencing, and bioinformatics deliver high-quality data. We observed that the findings could impact patient management by confirming or clarifying the diagnosis in 79 of the 82 tumors and detecting known or likely driver mutations in 68 of 79 patients. In addition to revealing known mutations in a broad spectrum of genes implicated in pediatric cancer, we discovered numerous alterations that may represent novel driver events and specific tumor entities. In summary, these examples reveal the power of NGS to identify a wide number of actionable gene alterations. Making the power of NGS available in healthcare is a challenging task requiring the integration of the work of clinical specialists and cancer biologists; this approach requires a dedicated infrastructure, as exemplified here by the BTB.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
650 7a NATURVETENSKAPx Biologix Bioinformatik och systembiologi0 (SwePub)106102 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Bioinformatics and Systems Biology0 (SwePub)106102 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
653 a Biobank
653 a Genomic
653 a Childhood cancer
653 a Next generation sequence
653 a Mutation
653 a Bioinformatics
653 a Methylation
653 a Biobank
653 a Bioinformatics
653 a Childhood cancer
653 a Genomic
653 a Methylation
653 a Mutation
653 a Next generation sequence
7001 a Shamikh, Aliau Karolinska Institute,Karolinska University Hospital4 aut
7001 a Mayrhofer, Markus,d 1981-u Karolinska Institutet,Uppsala University,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär evolution,Department of Cell and Molecular Biology, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Uppsala University, Uppsala, Sweden4 aut0 (Swepub:uu)marra353
7001 a Juhos, Szilvesteru Karolinska Institute4 aut
7001 a Basmaci, Elisau Karolinska Institutet,Karolinska Institute4 aut
7001 a Prochazka, Gabrielau Karolinska Institutet,Karolinska Institute4 aut
7001 a Garcia, Maximeu Karolinska Institute4 aut
7001 a Somarajan, Praveen Raju Karolinska Institute4 aut
7001 a Zielinska-Chomej, Katarzynau Karolinska Institutet,Karolinska Institute4 aut
7001 a Illies, Christopheru Karolinska Institute,Karolinska University Hospital4 aut
7001 a Øra, Ingridu Skane Univ Hosp Lund, Dept Paediat Haematol Oncol & Immunol, Lund, Sweden.,Department of Paediatric Haematology Oncology and Immunology, Skåne University Hospital Lund, Lund, Sweden4 aut0 (Swepub:lu)molm-ior
7001 a Siesjö, Peteru Lund University,Lunds universitet,Neurokirurgi,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Neurosurgery,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital4 aut0 (Swepub:lu)nkir-psi
7001 a Sandström, Per-Eriku Umeå University,Umeå universitet,Pediatrik,Umeå Univ, Dept Clin Sci, Pediat, Umeå, Sweden.4 aut0 (Swepub:umu)pesa0041
7001 a Stenman, Jakobu Karolinska Institutet,Karolinska Institute4 aut
7001 a Sabel, Magnus,d 1966u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xsabma
7001 a Gustavsson, Bengtu Karolinska Univ Hosp, Dept Neurosurg, Stockholm, Sweden.,Department of Neurosurgery, Karolinska University Hospital, Stockholm, Sweden4 aut
7001 a Kogner, Peru Karolinska Institutet,Karolinska Institute4 aut
7001 a Pfeifer, Susan,d 1948-u Uppsala University,Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Pediatric Hematology/Oncology, Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden4 aut0 (Swepub:uu)susapfei
7001 a Ljungman, Gustaf,d 1958-u Uppsala University,Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Pediatric Hematology/Oncology, Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden4 aut0 (Swepub:uu)gustaflm
7001 a Sandgren, Johannau Karolinska Institutet,Karolinska Institute,Karolinska University Hospital4 aut
7001 a Nistér, Monicau Karolinska Institute4 aut
7102 a Karolinska Instituteb Karolinska University Hospital4 org
7730 t Journal of Translational Medicined : BioMed Central (BMC)g 21q 21x 1479-5876
8564 u https://doi.org/10.1186/s12967-023-04178-4y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1776837/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://umu.diva-portal.org/smash/get/diva2:1774778/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u http://dx.doi.org/10.1186/s12967-023-04178-4x freey FULLTEXT
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-506579
8564 8u https://doi.org/10.1186/s12967-023-04178-4
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-209147
8564 8u https://lup.lub.lu.se/record/74d36791-53c9-434d-a95b-45417711cba9
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:152835602
8564 8u https://gup.ub.gu.se/publication/329408

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