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Article

Genotype-defined cancer risk in juvenile polyposis syndrome.

The British journal of surgery - 1 Jan 2015

Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi F H, Kalady M F, Burke C A, Church J M

Abstract excerpt

BACKGROUND: Germline mutations in SMAD4 and BMPR1A disrupt the transforming growth factor β signal transduction pathway, and are associated with juvenile polyposis syndrome. The effect of genotype on the pattern of disease in this syndrome is unknown. This study evaluated the differential impact of SMAD4 and BMPR1A gene mutations on cancer risk and oncological phenotype in patients with juvenile polyposis...

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Topics

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Share to Bone Morphogenetic Protein Receptors, Type I
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gastrointestinal Neoplasms

Share to Germ-Line Mutation

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Share to Neoplastic Syndromes, Hereditary

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Source

Identifiers

PMID: 25389115
DOI: 10.1002/bjs.9693

Genes

SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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