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Article

The prevalence of DICER1 pathogenic variation in population databases.

International journal of cancer - 15 Nov 2017

Kim Jung, Field Amanda, Schultz Kris Ann P, Hill D Ashley, Stewart Douglas R

Abstract excerpt

The DICER1 syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli-Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic DICER1 variation in the general population is unknown. We examined three publicly-available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1,000 Genomes...

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Source

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Identifiers

PMID: 28748527
DOI: 10.1002/ijc.30907
PMCID: PMC5749397

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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