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Article

Blurring the Lines: Co-Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient.

Clinical genetics - 1 Feb 2026

Shtaya Aasem Abu, Hadid Yarin, Mahamid Ahmad, Kidron Debora, Halpern Naama, Shalata Adel, Levi Zohar, Goldberg Yael

Abstract excerpt

Lynch syndrome (LS) is an autosomal dominant hereditary cancer predisposition syndrome caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. We report a 27-year-old woman with right-sided colorectal cancer, café-au-lait macules, and an occipital neurofibroma. Tumor testing revealed microsatellite instability, loss of MLH1 and PMS2 expression, high tumor mutational burden (21.87 mutations/Mb),...

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Topics

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Share to Colorectal Neoplasms
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to DNA Mismatch Repair

Share to Epigenesis, Genetic

Share to Germ-Line Mutation

Share to Microsatellite Instability

Share to MutL Protein Homolog 1

Source

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Identifiers

PMID: 41347766
DOI: 10.1111/cge.70045
PMCID: PMC12779244

Genes

MLH1
MSH6
BRAF
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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