Evidence map›Paper›PMID 41543911›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2026

An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.

Iris E Glykofridis, Marleen Dekker, Chantal Stoepker, Thomas W van Ravesteyn, Yvonne Tiersma, Cédric G van der Ham, Beaunelle de Bruijn, Salma Ebrahim, Renée X de Menezes, Esmee Kasteleijn and 3 more

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 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.

Iris E Glykofridis *Division of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.ORCID 0000-0003-1829-2403
Marleen Dekker *Division of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.ORCID 0000-0001-8033-5692
Chantal Stoepker *Division of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.
Thomas W van Ravesteyn *Division of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.
Yvonne TiersmaDivision of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.ORCID 0000-0001-7691-654X
Cédric G van der HamDivision of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.ORCID 0009-0007-0542-6819
Beaunelle de BruijnDivision of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.ORCID 0000-0001-5488-3695
Salma EbrahimDivision of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.ORCID 0009-0002-5881-0965
Renée X de MenezesBiostatistics Centre, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.
Esmee KasteleijnDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.ORCID 0009-0005-7669-631X
Frans VerheijenDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.
Tjakko J van HamDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands.ORCID 0000-0002-2175-8713
Hein Te RieleDivision of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.ORCID 0000-0003-0255-4042

Funding

Dutch Cancer Society 10645Dutch Cancer Society 14469Dutch Research Council TTW 1488
6 · The paper itself

Abstract

Lynch syndrome (LS) is a genetic predisposition to mainly colorectal and endometrial cancer due to heterozygous disruptive germline mutations in the DNA mismatch-repair (MMR) genes

Indexed as

Colorectal Neoplasms, Hereditary NonpolyposisAnimalsDNA-Binding ProteinsDNA Mismatch RepairFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMiceMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinDNA-Binding ProteinsMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinPMS2 protein, humanDNA mismatch repairfunctional assayLynch syndromeVUS

Identifiers

PMID41543911
PMCPMC12818420

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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.