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Sökning: WFRF:(Mayrhofer Markus) > The Swedish childho...

  • de Ståhl, Teresita DiazKarolinska Institute,Karolinska University Hospital (författare)

The Swedish childhood tumor biobank : systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • BioMed Central (BMC),2023
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-506579
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-506579URI
  • https://doi.org/10.1186/s12967-023-04178-4DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-209147URI
  • https://lup.lub.lu.se/record/74d36791-53c9-434d-a95b-45417711cba9URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:152835602URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Shamikh, AliaKarolinska Institute,Karolinska University Hospital (författare)
  • Mayrhofer, Markus,1981-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(Swepub:uu)marra353 (författare)
  • Juhos, SzilvesterKarolinska Institute (författare)
  • Basmaci, ElisaKarolinska Institutet,Karolinska Institute (författare)
  • Prochazka, GabrielaKarolinska Institute (författare)
  • Garcia, MaximeKarolinska Institute (författare)
  • Somarajan, Praveen RajKarolinska Institute (författare)
  • Zielinska-Chomej, KatarzynaKarolinska Institute (författare)
  • Illies, ChristopherKarolinska Institute,Karolinska University Hospital (författare)
  • Øra, IngridSkane Univ Hosp Lund, Dept Paediat Haematol Oncol & Immunol, Lund, Sweden.,Department of Paediatric Haematology Oncology and Immunology, Skåne University Hospital Lund, Lund, Sweden(Swepub:lu)molm-ior (författare)
  • Siesjö, PeterLund 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(Swepub:lu)nkir-psi (författare)
  • Sandström, Per-ErikUmeå University,Umeå universitet,Pediatrik,Umeå Univ, Dept Clin Sci, Pediat, Umeå, Sweden.(Swepub:umu)pesa0041 (författare)
  • Stenman, JakobKarolinska Institutet,Karolinska Institute (författare)
  • Sabel, MagnusSahlgrens Univ Hosp, Queen Silv Childrens Hosp, Childhood Canc Ctr, Gothenburg, Sweden.,Childhood Cancer Centre, Queen Silvia Children’s Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden (författare)
  • Gustavsson, BengtKarolinska Univ Hosp, Dept Neurosurg, Stockholm, Sweden.,Department of Neurosurgery, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Kogner, PerKarolinska Institutet,Karolinska Institute (författare)
  • Pfeifer, Susan,1948-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(Swepub:uu)susapfei (författare)
  • Ljungman, Gustaf,1958-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(Swepub:uu)gustaflm (författare)
  • Sandgren, JohannaKarolinska Institute,Karolinska University Hospital (författare)
  • Nistér, MonicaKarolinska Institute (författare)
  • Karolinska InstituteKarolinska University Hospital (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Journal of Translational Medicine: BioMed Central (BMC)211479-58761479-5876

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