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Article

Unveiling MMR deficiency in pediatric and AYA high-grade gliomas: insights from multiomic profiling.

Journal of neuro-oncology - 15 Oct 2025

Bhardwaj Supriya, Singh Jyotsna, Singh Swati, Roy Charli, Jangir Hemlata, Vasant Shrinidhi, Das Sumanta, Kedia Shweta, Garg Ajay, Suri Ashish, Sharma Mehar Chand, Dimayacyac Jose Rafael, Stengs Lucie, Tabori Uri, Das Anirban, Sarkar Chitra, Suri Vaishali

Abstract excerpt

PURPOSE: High-grade gliomas (HGGs) in children and adolescents/young adults (AYAs) are aggressive tumors with a poor prognosis. A subset is driven by constitutional mismatch repair deficiency (CMMRD), an inherited cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. Despite its clinical relevance, data on MMR deficiency (MMR-D) in Indian populations are scarce. METHODS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41094292
DOI: 10.1007/s11060-025-05261-0

Genes

ATRX
MLH1
MSH2
MSH6
NF1
PMS2
POLE
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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