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Article

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

Gastroenterology - 1 Jun 2013

Ngeow Joanne, Heald Brandie, Rybicki Lisa A, Orloff Mohammed S, Chen Jin Lian, Liu Xiuli, Yerian Lisa, Willis Joseph, Lehtonen Heli J, Lehtonen Rainer, Mester Jessica L, Moline Jessica, Burke Carol A, Church James, Aaltonen Lauri A, Eng Charis

Abstract excerpt

BACKGROUND & AIMS: Gastrointestinal polyposis is a common clinical problem, yet there is no consensus on how to best manage patients with moderate-load polyposis. Identifying genetic features of this disorder could improve management and especially surveillance of these patients. We sought to determine the prevalence of hamartomatous polyposis-associated mutations in the susceptibility genes PTEN, BMPR1A, SMAD4,...

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Share to AMP-Activated Protein Kinase Kinases
Share to Bone Morphogenetic Protein Receptors, Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23399955
DOI: 10.1053/j.gastro.2013.02.001
PMCID: PMC3969031

Genes

PTEN
ENG
SMAD4
STK11

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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