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Microsatellite Instability in Colorectal Cancer-the Stable Evidence
Open accessAbstract
Microsatellite instability (MSI) is the molecular fingerprint of a deficient mismatch repair system. Approximately 15% of colorectal cancers (CRC) display MSI owing either to epigenetic silencing of MLH1 or a germline mutation in one of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. Methods to detect MSI are well established and routinely incorporated into clinical practice. A clinical and molecular profile of MSI tumors has been described, leading to the concept of an MSI phenotype in CRC. Studies have confirmed that MSI tumors have a better prognosis than microsatellite stable CRC, but MSI cancers do not necessarily have the same response to the chemotherapeutic strategies used to treat microsatellite stable tumors. Specifically, stage II MSI tumors might not benefit from 5-fluorouracil-based adjuvant chemotherapy regimens. New data suggest possible advantages of irinotecan-based regimens, but these findings require further clarification. Characterization of the molecular basis of MSI in CRC is underway and initial results show that mutations in genes encoding kinases and candidate genes with microsatellite tracts are over-represented in MSI tumors. Transcriptome expression profiles of MSI tumors and systems biology approaches are providing the opportunity to develop targeted therapeutics for MSI CRC.
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“Tumors with MSI tend to have a better prognosis but respond differently to standard chemotherapeutic regimens [75].”
From Update on Targeted Therapy and Immunotherapy for Metastatic Colorectal Cancer (2024) · cites this paper as [75]
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“Approximately 15% of CRC tumors are characterized by microsatellite instability (MSI) [75].”
From Update on Targeted Therapy and Immunotherapy for Metastatic Colorectal Cancer (2024) · cites this paper as [75]
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Metadata
- Authors
- Vilar, E., & Gruber, S. B.
- Affiliations
- University of Michigan (US)
- Corresponding author
- Gruber, Stephen B.
- Venue
- Nature Reviews Clinical Oncology
- Published
- 2010-02-09
- Volume
- 7
- Issue
- 3
- Pages
- 153-162
- ISSN
- 1759-4774 (ISSN-L)
- 1759-4782
- PMC
- PMC3427139
- OpenAlex
- W2050658928
- Cited by
- 1,063
- References
- 100
- Citations by year
- 2026: 57 · 2025: 100 · 2024: 116 · 2023: 114 · 2022: 99 · 2021: 81 · 2020: 75 · 2019: 65 · 2018: 66 · 2017: 46 · 2016: 34 · 2015: 47 · 2014: 44 · 2013: 44 · 2012: 28
- FWCI
- 4.61
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Clinical Oncology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Cancer Institute (5P30 CA 46592, 1R01CA81488, R01CA081488, P30CA046592)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Oncology › Colorectal Cancer Treatments and Studies
- Health Sciences › Medicine › Oncology › Colorectal Cancer Surgical Treatments
- Keywords
- microsatellite instability, colorectal cancer, mismatch repair deficiency, prognosis, predictive biomarkers, irinotecan, kinase mutations, targeted therapy
- MeSH terms
- DNA Repair, Humans, Colorectal Neoplasms, Germ-Line Mutation, DNA Repair Enzymes, Microsatellite Instability
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