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The Swedish childho...
The Swedish childhood tumor biobank : systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden
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- de Ståhl, Teresita Diaz (author)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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- Shamikh, Alia (author)
- Karolinska Institute,Karolinska University Hospital
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- Mayrhofer, Markus, 1981- (author)
- 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, Sweden
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- Juhos, Szilvester (author)
- Karolinska Institute
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- Basmaci, Elisa (author)
- Karolinska Institutet,Karolinska Institute
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- Prochazka, Gabriela (author)
- Karolinska Institutet,Karolinska Institute
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- Garcia, Maxime (author)
- Karolinska Institute
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- Somarajan, Praveen Raj (author)
- Karolinska Institute
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- Zielinska-Chomej, Katarzyna (author)
- Karolinska Institutet,Karolinska Institute
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- Illies, Christopher (author)
- Karolinska Institute,Karolinska University Hospital
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- Øra, Ingrid (author)
- Skane Univ Hosp Lund, Dept Paediat Haematol Oncol & Immunol, Lund, Sweden.,Department of Paediatric Haematology Oncology and Immunology, Skåne University Hospital Lund, Lund, Sweden
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- Siesjö, Peter (author)
- 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 Hospital
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- Sandström, Per-Erik (author)
- Umeå University,Umeå universitet,Pediatrik,Umeå Univ, Dept Clin Sci, Pediat, Umeå, Sweden.
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- Stenman, Jakob (author)
- Karolinska Institutet,Karolinska Institute
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- Sabel, Magnus, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Gustavsson, Bengt (author)
- Karolinska Univ Hosp, Dept Neurosurg, Stockholm, Sweden.,Department of Neurosurgery, Karolinska University Hospital, Stockholm, Sweden
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- Kogner, Per (author)
- Karolinska Institutet,Karolinska Institute
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- Pfeifer, Susan, 1948- (author)
- Uppsala University,Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Pediatric Hematology/Oncology, Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden
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- Ljungman, Gustaf, 1958- (author)
- Uppsala University,Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Pediatric Hematology/Oncology, Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden
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- Sandgren, Johanna (author)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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- Nistér, Monica (author)
- Karolinska Institute
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(creator_code:org_t)
- BioMed Central (BMC), 2023
- 2023
- English.
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In: Journal of Translational Medicine. - : BioMed Central (BMC). - 1479-5876. ; 21
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Bioinformatik och systembiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Bioinformatics and Systems Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Biobank
- Genomic
- Childhood cancer
- Next generation sequence
- Mutation
- Bioinformatics
- Methylation
- Biobank
- Bioinformatics
- Childhood cancer
- Genomic
- Methylation
- Mutation
- Next generation sequence
Publication and Content Type
- ref (subject category)
- art (subject category)
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de Ståhl, Teresi ...
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Shamikh, Alia
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Mayrhofer, Marku ...
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Juhos, Szilveste ...
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Basmaci, Elisa
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Prochazka, Gabri ...
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show more...
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Garcia, Maxime
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Somarajan, Prave ...
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Zielinska-Chomej ...
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Illies, Christop ...
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Øra, Ingrid
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Siesjö, Peter
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Sandström, Per-E ...
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Stenman, Jakob
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Sabel, Magnus, 1 ...
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Gustavsson, Beng ...
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Kogner, Per
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Pfeifer, Susan, ...
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Ljungman, Gustaf ...
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Sandgren, Johann ...
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Nistér, Monica
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Bioinformatics a ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Journal of Trans ...
- By the university
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Uppsala University
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Umeå University
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Lund University
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Karolinska Institutet
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University of Gothenburg