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Article

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.

Gut - 1 May 2008

van Hattem W A, Brosens L A A, de Leng W W J, Morsink F H, Lens S, Carvalho R, Giardiello F M, Offerhaus G J A

Abstract excerpt

BACKGROUND/AIMS: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder characterised by multiple gastrointestinal juvenile polyps and an increased risk of colorectal cancer. This syndrome is caused by germline mutation of either SMAD4 or BMPR1A, and possibly ENG. PTEN, originally linked to Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, has also been associated with JPS. By direct...

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Share to Adenomatous Polyposis Coli
Share to Bone Morphogenetic Protein Receptors, Type I

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

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Share to PTEN Phosphohydrolase

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Source

Identifiers

PMID: 18178612
DOI: 10.1136/gut.2007.142927

Genes

SMAD4
PTEN
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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