Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

Journal of cancer research and clinical oncology - 13 Jun 2026

Apuhan Tuna, Demir Oguzhan, Sagnak Yilmaz Zeynep, Karaman Elanur, Turkyilmaz Ayberk, Cebi Alper Han

Abstract excerpt

BACKGROUND: Lynch syndrome is an inherited cancer predisposition syndrome caused by germline pathogenic variants in mismatch repair (MMR) genes and is primarily associated with colorectal and endometrial cancers. Classically, Lynch syndrome-associated tumors exhibit microsatellite instability (MSI) and loss of MMR protein expression on immunohistochemistry (IHC); therefore, MSI and IHC are routinely used in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Germ-Line Mutation

Share to Heterozygote

Share to Microsatellite Instability

Share to MutS Homolog 2 Protein

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 42286372
DOI: 10.1007/s00432-026-06526-5
PMCID: PMC13490022

Genes

MSH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.PMID 42286372Read ↗

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.Semantic proximity Read ↗

Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigeneticsSemantic proximity Read ↗

A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.Semantic proximity Read ↗

Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment.Semantic proximity Read ↗

Prognostic values of detecting MSI phenotypes in colorectal carcinoma by immunohistochemical method compared to molecular investigation.Semantic proximity Read ↗

Phenotypic Heterogeneity by Germline Mismatch Repair Gene Defect in Lynch Syndrome Patients.Semantic proximity Read ↗

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.Semantic proximity Read ↗

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic VariantsSemantic proximity Read ↗

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.Semantic proximity Read ↗

Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical PracticeSemantic proximity Read ↗

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome DatabaseSemantic proximity Read ↗

The diversity of tumours with microsatellite instability: molecular mechanisms and impact upon microsatellite instability testing and mismatch repair protein immunohistochemistry.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.