Evidence map›Paper›PMID 42001099›Full record

ArticleHereditary cancer in clinical practice2026

Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis.

Antoine Dardenne, Camille Loisel, Anna Pellat, Alexandre Perrier, Julie Metras, Thomas Samaille, Yann Parc, Julie Leclerc, Romain Cohen, Thierry André

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In one paragraph

Article in Hereditary cancer in clinical practice, 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

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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

10 authors.

Antoine Dardenne *Department of Medical Oncology, Saint-Antoine Hospital, AP-HP , Sorbonne University, Paris, 75012, France. antoine.dardenne@aphp.fr.
Camille Loisel *Department of Medical Oncology, Saint-Antoine Hospital, AP-HP , Sorbonne University, Paris, 75012, France.
Anna PellatDigestive Oncology Department, Gastroenterology, Digestive Endoscopy, Cochin Hospital, AP-HP Centre, Paris, France.
Alexandre PerrierDepartment of Genetics, AP-HP, Pitié-Salpêtrière University Hospital, Sorbonne University, Paris, France.
Julie MetrasDepartment of Genetics, AP-HP, Pitié-Salpêtrière University Hospital, Sorbonne University, Paris, France.
Thomas SamailleDepartment of Medical Oncology, Saint-Antoine Hospital, AP-HP , Sorbonne University, Paris, 75012, France.
Yann ParcDepartment of Digestive Surgery, AP-HP, Saint-Antoine Hospital, Sorbonne University, Paris, France.
Julie LeclercLille University, CNRS, INSERM, CHU Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, Lille, France.
Romain CohenDepartment of Medical Oncology, Saint-Antoine Hospital, AP-HP , Sorbonne University, Paris, 75012, France.
Thierry AndréDepartment of Medical Oncology, Saint-Antoine Hospital, AP-HP , Sorbonne University, Paris, 75012, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Immune checkpoint inhibitors (ICIs) have transformed outcomes in microsatellite instability-high (MSI-H) deficient mismatch repair (dMMR) cancers. The influence of germline MMR gene variants on ICI remains unclear. In this single-center study, 93 patients with Lynch syndrome-associated MSI-H/dMMR digestive cancers received ICI monotherapy or combination therapy. Germline MMR variants were classified, and progression-free survival (PFS) was evaluated by gene and variant type. Most patients carried MLH1 or MSH2 variants. At 24 months, estimated PFS was 81.5% for MLH1, 67.2% for MSH2/EPCAM, and 78.6% for MSH6, with no PFS events in MLH1 promoter methylation or PMS2 subgroups. No statistically significant differences in PFS were observed between gene groups. Performance status ≥ 2 was the only factor associated with poorer PFS. Neither MMR gene type nor variant class significantly influenced ICI efficacy in Lynch syndrome-related MSI-H/dMMR digestive cancers, supporting the use of ICIs regardless of germline MMR genotype.

Indexed as

Digestive cancersGermline MMR variantsImmune checkpoint inhibitorsImmunotherapy responseLynch syndromeMSI-H/dMMR

Identifiers

PMID42001099
PMCPMC13224413

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