DICER1-related tumour predisposition mutations increase 3p-miRNA function and HERVH activity.

doi:10.1038/s41467-026-76094-2

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Article

DICER1-related tumour predisposition mutations increase 3p-miRNA function and HERVH activity.

Nature communications - 25 Jul 2026

Gordon Katrina, Bellora Nicolas, Witteveldt Jeroen, Wojtus Joanna K, Mueller Felix, Kases Katharina J, Marchante Pilar G, Peris Guillermo, Boyle Shelagh, Heras Sara R, Cook Atlanta G, Abreu-Goodger Cei, Macias Sara

Abstract excerpt

The DICER1 gene is mutated in cancer, including in DICER1-related tumour predisposition. Cancer-associated hotspot mutations have been reported in both catalytic domains of DICER and are predicted to disrupt miRNA biogenesis. To understand how these hotspot mutations contribute to cancer development, we generate cell lines harbouring single amino acid substitutions within the catalytic RNase IIIa (S1344L) or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42642426
DOI: 10.1038/s41467-026-76094-2
PMCID: PMC13507251

Genes

DICER1
AGO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.