TY  - JOUR
AU  - Bolduan, Felix
AU  - Müller-Bötticher, Niklas
AU  - Debnath, Olivia
AU  - Eichhorn, Ines
AU  - Giesecke, Yvonne
AU  - Wetzel, Alexandra
AU  - Sahay, Shashwat
AU  - Zemojtel, Tomasz
AU  - Jaeger, Marten
AU  - Ungethuem, Ute
AU  - Roderburg, Christoph
AU  - Kunze, Catarina Alisa
AU  - Lehmann, Annika
AU  - Horst, David
AU  - Tacke, Frank
AU  - Eils, Roland
AU  - Wiedenmann, Bertram
AU  - Sigal, Michael
AU  - Ishaque, Naveed
TI  - Small intestinal neuroendocrine tumors lack early genomic drivers, acquire DNA repair defects and harbor hallmarks of low REST expression.
JO  - Scientific reports
VL  - 15
IS  - 1
SN  - 2045-2322
CY  - [London]
PB  - Springer Nature
M1  - DKFZ-2025-01091
SP  - 17969
PY  - 2025
AB  - 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
KW  - Humans
KW  - Neuroendocrine Tumors: genetics
KW  - Neuroendocrine Tumors: pathology
KW  - Neuroendocrine Tumors: metabolism
KW  - Intestinal Neoplasms: genetics
KW  - Intestinal Neoplasms: pathology
KW  - DNA Repair: genetics
KW  - Gene Expression Regulation, Neoplastic
KW  - Female
KW  - Male
KW  - Repressor Proteins: genetics
KW  - Repressor Proteins: metabolism
KW  - Intestine, Small: pathology
KW  - Intestine, Small: metabolism
KW  - Gene Expression Profiling
KW  - Middle Aged
KW  - Transcriptome
KW  - Germ-Line Mutation
KW  - Genomics
KW  - Adult
KW  - Repressor Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40410286
C2  - pmc:PMC12102166
DO  - DOI:10.1038/s41598-025-01912-4
UR  - https://inrepo02.dkfz.de/record/301583
ER  -