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Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.

Clinical genetics - 1 May 2026

Walpole Sebastian, Santiago-Vela Miren Itxaso, Birkedal Ulf, Hong Zhenyi, Ros Xavier Bofill-De, van Overeem Hansen Thomas, Wadt Karin A W

Abstract excerpt

Pathogenic germline variants in DICER1 predispose to pleuropulmonary blastoma, multinodular goitre, embryonal rhabdomyosarcomas of the uterine cervix, ovarian Sertoli-Leydig cell tumour and a broader spectrum of pathologies. Here, we report a 35-year-old female with diagnoses of pineoblastoma, embryonal rhabdomyosarcoma, leiomyosarcoma, two meningiomas, and a germline DICER1 c.4206+1G>C, p.(?) variant. The...

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Identifiers

PMID: 41277477
DOI: 10.1111/cge.70110

Genes

DICER1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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