Evidence map›Paper›PMID 40948606›Full record

ArticleHuman mutation2025

A Cell-Based Functional Assay Calibrated for Analysis of

Elizabeth Szabo, Emily Blackburn, Olivia N Amodeo, Samantha Nadeau, Alexander A Radecki, James P Grady, Abhijit Rath, Christopher D Heinen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. The Tyrolean FounderBiomolecules · 2026
    Article
  2. Review
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

8 authors.

Elizabeth SzaboCenter for Molecular Oncology, UConn Health, Farmington, Connecticut, USA.
Emily BlackburnCenter for Molecular Oncology, UConn Health, Farmington, Connecticut, USA.
Olivia N AmodeoDepartment of Molecular and Cell Biology, University of Connecticut, Storrs, Connecticut, USA.
Samantha NadeauCenter for Molecular Oncology, UConn Health, Farmington, Connecticut, USA.
Alexander A RadeckiDepartment of Molecular Biology & Biophysics, UConn Health, Farmington, Connecticut, USA.
James P GradyDepartment of Public Health Sciences, UConn Health, Farmington, Connecticut, USA.ORCID 0000-0003-4783-5964
Abhijit RathCenter for Molecular Oncology, UConn Health, Farmington, Connecticut, USA.ORCID 0000-0002-0226-8313
Christopher D HeinenCenter for Molecular Oncology, UConn Health, Farmington, Connecticut, USA.ORCID 0000-0003-4338-6858

Funding

Hereditary Cancer Variants of Uncertain Significance in Stem CellsR01CA222477 · NCI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI HEINEN, CHRISTOPHER D. · 2019 to 2024
$1.9M
NCI NIH HHS R01 CA222477
6 · The paper itself

Abstract

Variants of uncertain significance (VUS) in the DNA mismatch repair (MMR) genes can confound the diagnosis and treatment of suspected Lynch syndrome (LS) patients. To aid the reclassification of VUS, we developed the in cellulo analysis of MMR variants (inCAMA) and used known control variants to calibrate this assay such that results can be readily applied as functional evidence by expert classification panels. We used CRISPR gene engineering to introduce known pathogenic and benign variants into the

Indexed as

DNA-Binding ProteinsDNA Mismatch RepairGenetic VariationMutS Homolog 2 ProteinCalibrationColorectal Neoplasms, Hereditary NonpolyposisHuman Embryonic Stem CellsHumansDNA-Binding ProteinsG-T mismatch-binding proteinMSH2 protein, humanMutS Homolog 2 ProteinCRISPR gene editingDNA damage responsefunctional assayLynch syndromemicrosatellite instabilitymismatch repairvariant of uncertain significance

Identifiers

PMID40948606
PMCPMC12433325

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.