Evidence map›Paper›PMID 41551532›Full record

ArticleWorld journal of gastroenterology2026

Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.

Tibor Tóth, Renáta Bor, Dóra Nagy, Dóra Török, Tamás Molnár, Klaudia Farkas, Anna Fábián, Zsófia Bősze, Anita Bálint, Péter Bacsur and 3 more

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Article in World journal of gastroenterology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Tibor TóthDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Renáta BorDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Dóra NagyDepartment of Medical Genetics, Albert Szent-Györgyi Medical School, University of Szeged, Szeged 6720, Csongrád-Csanád, Hungary.
Dóra TörökDepartment of Medical Genetics, Albert Szent-Györgyi Medical School, University of Szeged, Szeged 6720, Csongrád-Csanád, Hungary.
Tamás MolnárDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Klaudia FarkasDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Anna FábiánDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Zsófia BőszeDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Anita BálintDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Péter BacsurDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Tamás ResálDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary.
Marta SzellDepartment of Medical Genetics, Albert Szent-Györgyi Medical School, University of Szeged, Szeged 6720, Csongrád-Csanád, Hungary.
Zoltán SzepesDepartment of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary. szepes.zoltan@med.u-szeged.hu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial adenomatous polyposis (FAP) is a disorder of autosomal dominant inheritance that is responsible for around 1% of colorectal cancer (CRC) cases.

aimTo determine the mutation profile of FAP-specific to the Hungarian population.

methodsThis prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP (aFAP). Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes. To identify larger deletions and insertions, a multiplex amplifiable probe hybridization technique was used. The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.

resultsA total of 26 index patients with clinically suspected FAP (

conclusionGermline mutations in the

Indexed as

Adenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinAdultAgedDNA Mutational AnalysisExome SequencingFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansHungaryMaleMiddle AgedMutationProspective StudiesYoung AdultAdenomatous Polyposis Coli ProteinAPC protein, humanAPCColorectal cancerFamilial adenomatous polyposisGenetic testingGenomicsGermline mutationPolyposis syndrome

Identifiers

PMID41551532
PMCPMC12809144

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.