Related Experiment Video
Updated: Aug 14, 2026
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Muir-Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole-Genome Sequencing: A Case
Keisuke Noda1,2, Hirokazu Kurohama1,3, Katsuya Matsuda1
1Department of Tumor and Diagnostic Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Pathology International
|August 13, 2026
Summary
Muir-Torre syndrome, a mismatch repair deficiency, was diagnosed in a patient with multiple tumors. Concordant protein loss guided genomic investigation, revealing a pathogenic intronic MSH2 variant missed by standard gene panels.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Mismatch repair deficiency (dMMR) without germline mutations is often termed Lynch-like syndrome.
- Muir-Torre syndrome (MTS) is a rare variant of Lynch syndrome characterized by dMMR and sebaceous neoplasms.
- Standard multigene panel testing may fail to detect certain pathogenic variants, particularly intronic ones.
Related Concept Videos
01:20Mismatch Repair
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
01:36Mismatch Repair
Overview