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Article

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.

Nature communications - 25 Mar 2023

Kommoss Felix K F, Chong Anne-Sophie, Chong Anne-Laure, Pfaff Elke, Jones David T W, Hiemcke-Jiwa Laura S, Kester Lennart A, Flucke Uta, Gessler Manfred, Schrimpf Daniel, Sahm Felix, Clarke Blaise A, Stewart Colin J R, Wang Yemin, Gilks C Blake, Kommoss Friedrich, Huntsman David G, Schüller Ulrich, Koelsche Christian, McCluggage W Glenn, von Deimling Andreas, Foulkes William D

Abstract excerpt

DICER1 syndrome is a tumor predisposition syndrome that is associated with up to 30 different neoplastic lesions, usually affecting children and adolescents. Here we identify a group of mesenchymal tumors which is highly associated with DICER1 syndrome, and molecularly distinct from other DICER1-associated tumors. This group of DICER1-associated mesenchymal tumors encompasses multiple well-established...

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Rare Diseases
Child
DEAD-box RNA Helicases
Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

Neoplastic Syndromes, Hereditary

Ribonuclease III

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Identifiers

PMID: 36966138
DOI: 10.1038/s41467-023-37092-w
PMCID: PMC10039902

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