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Article

SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.

American journal of medical genetics. Part A - 1 Sept 2024

Vautier Sabine, Mauillon Jacques, Parodi Nathalie, Bou Jacqueline, Kasper Edwige, Manase Sandrine, Houdayer Claude, Baert-Desurmont Stéphanie

Abstract excerpt

Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with pathogenic variants of BMPR1A and SMAD4. We present the description of SMAD4 mosaicism in a 30-year-old man who had caecum adenocarcinoma, 11 juvenile colon polyps and epistaxis since childhood. We conducted NGS polyposis and CRC panel analysis on DNA extracted from two...

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Share to Bone Morphogenetic Protein Receptors, Type I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neoplastic Syndromes, Hereditary

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Identifiers

PMID: 38695688
DOI: 10.1002/ajmg.a.63648

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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