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Article

The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition.

Journal of medical genetics - 25 Jun 2026

Taiwo Oluwatosin O, Angelini Paola, Awadh Iman, Domecq Celine, Foulkes William D, Mugalaasi Hood, Cope Henry, Stasevich Iryna, Lawrence Samuel E D, Andreou Avgi, Macmahon Suzanne, Valganon-Petrizan Mikel, Hanson Helen

Abstract excerpt

DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP requires identification of a (likely) pathogenic germline DICER1 variant to confirm the diagnosis, and guide clinical management, including cascade testing and surveillance of at-risk relatives.We report a 14-year-old girl...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41916722
DOI: 10.1136/jmg-2025-111365

Genes

DICER1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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