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  • Lindqvist, C MårtenUppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin (author)

The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing

  • Article/chapterEnglish2015

Publisher, publication year, extent ...

  • 2014-12-30
  • Hindawi Limited,2015
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:su-113550
  • https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-113550URI
  • https://doi.org/10.1002/humu.22719DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:130398322URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-238183URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-99364URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • AuthorCount:21;
  • Genomic characterization of pediatric acute lymphoblastic leukemia (ALL) has identified distinct patterns of genes and pathways altered in patients with well-defined genetic aberrations. To extend the spectrum of known somatic variants in ALL, we performed whole genome and transcriptome sequencing of three B-cell precursor patients, of which one carried the t(12;21)ETV6-RUNX1 translocation and two lacked a known primary genetic aberration, and one T-ALL patient. We found that each patient had a unique genome, with a combination of well-known and previously undetected genomic aberrations. By targeted sequencing in 168 patients, we identified KMT2D and KIF1B as novel putative driver genes. We also identified a putative regulatory non-coding variant that coincided with overexpression of the growth factor MDK. Our results contribute to an increased understanding of the biological mechanisms that lead to ALL and suggest that regulatory variants may be more important for cancer development than recognized to date. The heterogeneity of the genetic aberrations in ALL renders whole genome sequencing particularly well suited for analysis of somatic variants in both research and diagnostic applications.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Nordlund, JessicaUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)jesno775 (author)
  • Ekman, DianaStockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, Sweden(Swepub:su)dekma (author)
  • Johansson, AnnaUppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär evolution(Swepub:uu)anjoh226 (author)
  • Moghadam, Behrooz TorabiUppsala universitet,Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab(Swepub:uu)behto381 (author)
  • Raine, AmandaUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)amrai226 (author)
  • Övernäs, ElinUppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin(Swepub:uu)elove172 (author)
  • Dahlberg, JohanUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)johda411 (author)
  • Wahlberg, PerUppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin(Swepub:uu)pewah499 (author)
  • Henriksson, NiklasUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)nihen255 (author)
  • Abrahamsson, JonasDepartment of Pediatrics, Queen Silvia Children's Hospital, Gothenburg, Sweden (author)
  • Frost, Britt-Marie,1955-Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnonkologisk forskning/Ljungman(Swepub:uu)brittfro (author)
  • Grander, DanKarolinska Institutet,Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden (author)
  • Heyman, MatsKarolinska Institutet,Childhood Cancer Research Unit, Department of Women and Child Health, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden (author)
  • Larsson, RolfUppsala universitet,Cancerfarmakologi och beräkningsmedicin(Swepub:uu)rolflars (author)
  • Palle, Josefine,1964-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin,Institutionen för kvinnors och barns hälsa,Barnonkologisk forskning/Ljungman(Swepub:uu)jopal516 (author)
  • Söderhall, StefanKarolinska Institutet,Childhood Cancer Research Unit, Department of Women and Child Health, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden (author)
  • Forestier, ErikUmeå universitet,Institutionen för medicinsk biovetenskap(Swepub:umu)erfo0007 (author)
  • Lönnerholm, Gudmar,1941-Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnonkologisk forskning/Ljungman(Swepub:uu)gudmarlh (author)
  • Syvänen, Ann-ChristineUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)anncsyva (author)
  • Berglund, Eva CUppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär medicin(Swepub:uu)evber498 (author)
  • Uppsala universitetScience for Life Laboratory, SciLifeLab (creator_code:org_t)

Related titles

  • In:Human Mutation: Hindawi Limited36:1, s. 118-1281059-77941098-1004

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