ArticleGenome research2020
Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.
Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it.
- EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours.European journal of human genetics : EJHG · 2026Guideline
- Review
- Mechanisms of LARP7 in regulating the progression of non-small cell lung cancer.Journal of thoracic disease · 2026Article
- Comparison of immunohistochemistry, PCR, and NGS for the evaluation of mismatch repair deficiency and microsatellite instability in colorectal cancer: a retrospective study.Diagnostic pathology · 2026Article
- Design and synthesis of 2-amino-4-(trifluoromethyl)pyrimidine derivatives as potential Werner-dependent antiproliferative agents.Molecular diversity · 2026Article
- Biomarkers for predicting and monitoring the efficacy of cancer vaccines.Frontiers in oncology · 2026Review
- Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.Nature communications · 2025Article
- Article
- Multicancer analyses of short tandem repeat variations reveal shared gene regulatory mechanisms.Briefings in bioinformatics · 2025Article
- NCAPD3 promotes diffuse large B-cell lymphoma progression through modulating SIRT1 expression in an H3K9 monomethylation-dependent manner.Journal of advanced research · 2025Article
- STR profiling in a cohort of Saudi patients with acute leukemia.Journal of Taibah University Medical Sciences · 2025Article
- Comprehensive fragmentation of cell-free repetitive DNA for enhanced cancer detection in plasma.Frontiers in cell and developmental biology · 2025Article
- InDEL instability in two different tumoral tissues and its forensic significance.Forensic science, medicine, and pathology · 2024Article
- Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours.Human molecular genetics · 2024Article
- MSIsensor-RNA: Microsatellite Instability Detection for Bulk and Single-cell Gene Expression Data.Genomics, proteomics & bioinformatics · 2024Article
- Genome-wide detection of somatic mosaicism at short tandem repeats.Bioinformatics (Oxford, England) · 2024Article
- Performance assessment of computational tools to detect microsatellite instability.Briefings in bioinformatics · 2024Article
- Microsatellite instability: A 2024 update.Cancer science · 2024Review
- Accurate and sensitive mutational signature analysis with MuSiCal.Nature genetics · 2024Article
- Article
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microsatellites are repeats of 1- to 6-bp units, and approximately 10 million microsatellites have been identified across the human genome. Microsatellites are vulnerable to DNA mismatch errors and have thus been used to detect cancers with mismatch repair deficiency. To reveal the mutational landscape of microsatellite repeat regions at the genome level, we analyzed approximately 20.1 billion microsatellites in 2717 whole genomes of pan-cancer samples across 21 tissue types. First, we developed a new insertion and deletion caller (MIMcall) that takes into consideration the error patterns of different types of microsatellites. Among the 2717 pan-cancer samples, our analysis identified 31 samples, including colorectal, uterus, and stomach cancers, with a higher proportion of mutated microsatellite (≥0.03), which we defined as microsatellite instability (MSI) cancers of genome-wide level. Next, we found 20 highly mutated microsatellites that can be used to detect MSI cancers with high sensitivity. Third, we found that replication timing and DNA shape were significantly associated with mutation rates of microsatellites. Last, analysis of mutations in mismatch repair genes showed that somatic SNVs and short indels had larger functional impacts than germline mutations and structural variations. Our analysis provides a comprehensive picture of mutations in the microsatellite regions and reveals possible causes of mutations, as well as provides a useful marker set for MSI detection.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.