Evidence map›Paper›PMID 42650866›Full record

ArticleBiomolecules2026

The Tyrolean Founder

Sukanya Horpaopan, Esther Schamschula, Heidelinde Fiegl, Hannes Dapoz, Christina Lutz-Nicoladoni, Simon Schnaiter, Albert Amberger, Ulrich Strasser, Renate Lunzer, Andreas von der Heidt and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

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

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.

Sukanya HorpaopanInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0001-5353-0409
Esther SchamschulaInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-8874-1713
Heidelinde FieglDepartment of Obstetrics and Gynecology, Medical University Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-1236-6806
Hannes DapozTyrolpath Obrist Brunhuber GmbH, 6511 Zams, Austria.
Christina Lutz-NicoladoniInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
Simon SchnaiterInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.ORCID 0009-0009-5213-6237
Albert AmbergerInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
Ulrich StrasserTyrolpath Obrist Brunhuber GmbH, 6511 Zams, Austria.
Renate LunzerInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
Andreas von der HeidtInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
Katalin CsanakyInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
Johannes ZschockeInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.
Katharina WimmerInstitute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-0732-7538

Funding

Austrian Agency for Education and Internationalization MPC/2021-00537
6 · The paper itself

Abstract

The identification of a pathogenic variant (PV) in one of the mismatch repair (MMR) genes confirms the diagnosis of Lynch syndrome (LS). Hence, the correct classification of MMR gene variants is of utmost importance for appropriate counselling, surveillance, and treatment of LS patients and their families. In 7/200 unrelated Tyrolean-suspected LS patients, we identified the rare variant

Indexed as

Adaptor Proteins, Signal TransducingColorectal Neoplasms, Hereditary NonpolyposisFounder EffectMutL Protein Homolog 1Nuclear ProteinsRNA SplicingFemaleHumansPedigreeAdaptor Proteins, Signal TransducingMLH1 protein, humanMutL Protein Homolog 1Nuclear Proteinsfounder mutationleaky splice effectLynch syndromeMLH1variant classification

Identifiers

PMID42650866
PMCPMC13510572

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.