Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Zur Ergebnisliste
Ergebnis 14 von 29
Open Access
    Datensatz exportieren als...
  • BibTeX
Whole-genome landscape of pancreatic neuroendocrine tumours
Nature (London), 2017-03, Vol.543 (7643), p.65-71
2017

Details

Autor(en) / Beteiligte
Titel
Whole-genome landscape of pancreatic neuroendocrine tumours
Ist Teil von
  • Nature (London), 2017-03, Vol.543 (7643), p.65-71
Ort / Verlag
England: Nature Publishing Group
Erscheinungsjahr
2017
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
  • The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients. Somatic mutations, including point mutations and gene fusions, were commonly found in genes involved in four main pathways: chromatin remodelling, DNA damage repair, activation of mTOR signalling (including previously undescribed EWSR1 gene fusions), and telomere maintenance. In addition, our gene expression analyses identified a subgroup of tumours associated with hypoxia and HIF signalling.
Sprache
Englisch
Identifikatoren
ISSN: 0028-0836
eISSN: 1476-4687
DOI: 10.1038/nature21063
Titel-ID: cdi_proquest_journals_1874392594
Format
–
Schlagworte
Base Sequence, Biomarkers, Calmodulin-Binding Proteins - genetics, Carcinoma, Neuroendocrine - genetics, Chromatin Assembly and Disassembly - genetics, Chromosome Aberrations, DNA Copy Number Variations - genetics, DNA Glycosylases - genetics, DNA Mutational Analysis, DNA Repair - genetics, DNA sequencing, Female, Genes, Genetic aspects, Genome, Human - genetics, Genomes, Genomics, Germ-Line Mutation - genetics, Humans, Male, Methods, Mutation, Nucleotide sequencing, Pancreatic cancer, Pancreatic Neoplasms - genetics, Patients, RNA-Binding Protein EWS, RNA-Binding Proteins - genetics, Signatures, Telomere - genetics, Telomere - metabolism, TOR Serine-Threonine Kinases - metabolism, Tumors

Weiterführende Literatur

Empfehlungen zum selben Thema automatisch vorgeschlagen von bX