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Updated: Feb 15, 2026
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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
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Hypermutation and microsatellite instability in gastrointestinal cancers
Kizuki Yuza1, Masayuki Nagahashi1, Satoshi Watanabe2
1Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata City, Niigata 951-8510, Japan.
Oncotarget
|January 18, 2018
Summary
Identifying hypermutated gastrointestinal cancers with DNA mismatch repair defects (microsatellite instability) is crucial. This helps predict immunotherapy response and guides surgical and chemotherapeutic treatments in precision medicine.
Area of Science:
- Genomic Medicine
- Oncology
- Cancer Genomics
Background:
- Next-generation sequencing reveals high mutation burdens in some tumors, correlating with neo-antigen generation and immune response.
- Hypermutation in tumors has various causes, including UV light, tobacco smoke, APOBEC activity, and DNA mismatch repair defects leading to microsatellite instability (MSI).
- Identifying hypermutated tumors is clinically valuable for predicting immunotherapy treatment suitability.
Purpose of the Study:
- To review the frequency, characteristics, and genomic signatures of hypermutated gastrointestinal cancers associated with MSI.
- To highlight the clinical significance of detecting hypermutation and MSI in gastrointestinal cancers.
Main Methods:
- Focus on literature review concerning hypermutated gastrointestinal cancers with MSI.
- Analysis of genomic signatures and clinical implications.
Main Results:
- Hypermutation in gastrointestinal cancers is frequently linked to MSI due to DNA mismatch repair defects.
- Tumor hypermutation predicts clinical benefit from immune checkpoint inhibitors.
- Detection of hypermutation and MSI aids in surgical and chemotherapeutic treatment decisions.
Conclusions:
- Hypermutation and MSI are key biomarkers in gastrointestinal cancers.
- Identification of hypermutated tumors guides precision medicine strategies, including immunotherapy selection.
- Understanding hypermutation signatures improves patient stratification for tailored cancer therapies.
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