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Article

DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2025

Salvador Lluis, Valle Jesús Del, Dorca Eduard, Chong Anne-Sophie, Chong Anne-Laure, Camacho Valenzuela José, Munté Elisabet, Rioja Cristina, Martí-Sánchez Laura, Salinas Mónica, Darder Esther, Fabian Marc R, Brunet Joan, Salvador Hector, Lázaro Conxi, Rivera Barbara

Abstract excerpt

PURPOSE: DICER1 tumor predisposition syndrome (DTPS) is a hereditary condition affecting children and young adults. Identification of DICER1 carriers is key for prevention and actionability in families. However, DTPS diagnosis is hindered by its incomplete penetrance and broad phenotypic spectrum. METHODS: We performed an analysis of DICER1 sequencing data from 92 children and 6108 adults with suspected cancer...

Read the complete abstract on PubMed

Topics

Humans
Ribonuclease III
DEAD-box RNA Helicases
Female
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Phenotype

Mosaicism

Adult

Male

Middle Aged

Germ-Line Mutation

Child, Preschool

Prevalence

Neoplasms

Adolescent

Young Adult

Neoplastic Syndromes, Hereditary

Source

Identifiers

PMID: 39976125
DOI: 10.1016/j.gim.2025.101385

Genes

DICER1

Provenance

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