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Article

DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know.

Journal of pediatric urology - 1 Feb 2016

Faure Alice, Atkinson John, Bouty Aurore, O'Brien Mike, Levard Guillaume, Hutson John, Heloury Yves

Abstract excerpt

INTRODUCTION: Germline-inactivating DICER1 mutations are responsible of a familial tumour susceptibility syndrome with an increased risk of tumours, mainly pleuropulmonary blastoma (PPB). DICER1 mutations also cause a range of other tumours, some of them in urogenital organs (cystic nephroma [CN], ovarian sex cord-stromal tumours, bladder and cervix embryonal rhabdomyosarcoma [ERMS]). OBJECTIVE: The aim was to...

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Identifiers

PMID: 26454454
DOI: 10.1016/j.jpurol.2015.08.012

Genes

DICER1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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