%0 Journal Article
%A Bolduan, Felix
%A Müller-Bötticher, Niklas
%A Debnath, Olivia
%A Eichhorn, Ines
%A Giesecke, Yvonne
%A Wetzel, Alexandra
%A Sahay, Shashwat
%A Zemojtel, Tomasz
%A Jaeger, Marten
%A Ungethuem, Ute
%A Roderburg, Christoph
%A Kunze, Catarina Alisa
%A Lehmann, Annika
%A Horst, David
%A Tacke, Frank
%A Eils, Roland
%A Wiedenmann, Bertram
%A Sigal, Michael
%A Ishaque, Naveed
%T Small intestinal neuroendocrine tumors lack early genomic drivers, acquire DNA repair defects and harbor hallmarks of low REST expression.
%J Scientific reports
%V 15
%N 1
%@ 2045-2322
%C [London]
%I Springer Nature
%M DKFZ-2025-01091
%P 17969
%D 2025
%X The tumorigenesis of small intestinal neuroendocrine tumors (siNETs) is not understood and comprehensive genomic and transcriptomic data sets are limited. Therefore, we performed whole genome and transcriptome analysis of 39 well differentiated siNET samples. Our genomic data revealed a lack of recurrent driver mutations and demonstrated that multifocal siNETs from individual patients can arise genetically independently. We detected germline mutations in Fanconi anemia DNA repair pathway (FANC) genes, involved in homologous recombination (HR) DNA repair, in 9
%K Humans
%K Neuroendocrine Tumors: genetics
%K Neuroendocrine Tumors: pathology
%K Neuroendocrine Tumors: metabolism
%K Intestinal Neoplasms: genetics
%K Intestinal Neoplasms: pathology
%K DNA Repair: genetics
%K Gene Expression Regulation, Neoplastic
%K Female
%K Male
%K Repressor Proteins: genetics
%K Repressor Proteins: metabolism
%K Intestine, Small: pathology
%K Intestine, Small: metabolism
%K Gene Expression Profiling
%K Middle Aged
%K Transcriptome
%K Germ-Line Mutation
%K Genomics
%K Adult
%K Repressor Proteins (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40410286
%2 pmc:PMC12102166
%R 10.1038/s41598-025-01912-4
%U https://inrepo02.dkfz.de/record/301583