ArticleeLife2014
Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.
Article in eLife, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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Who cites it
44 citing papers in PubMed.
- Evaluation of efficacy and safety markers in a phase II study of metastatic colorectal cancer treated with aflibercept in the first-line setting.British journal of cancer · 2015Trial
- Implications of DNA damage response and immunotherapy in tumor therapy.Cell communication and signaling : CCS · 2025Review
- Level of DNA damage in peripheral blood mononuclear cells in endometrial cancer patients according to histological type and tumor differentiation.Molecular biology reports · 2025Article
- Detection of Microsatellite Instability in Endometrial Carcinoma Using a Novel Homopolymer Assay.International journal of surgical pathology · 2025Article
- Genomic landscape of diffuse glioma revealed by whole genome sequencing.Nature communications · 2025Article
- Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.International journal of cancer · 2025Article
- Somatic mutations in aging and disease.GeroScience · 2024Review
- Review
- Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.Cell reports · 2023Article
- Development and Multicenter Case-Control Validation of Urinary Comprehensive Genomic Profiling for Urothelial Carcinoma Diagnosis, Surveillance, and Risk-Prediction.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Identification of RNF150 as the hub gene associated with microsatellite instability in gastric cancer.Scientific reports · 2023Article
- Combining targeted DNA repair inhibition and immune-oncology approaches for enhanced tumor control.Molecular cell · 2023Review
- Challenges and Therapeutic Opportunities in the dMMR/MSI-H Colorectal Cancer Landscape.Cancers · 2023Review
- Frequency of microsatellite instability (MSI) in upper tract urothelial carcinoma: comparison of the Bethesda panel and the Idylla MSI assay in a consecutively collected, multi-institutional cohort.Journal of clinical pathology · 2023Article
- Prognostic stratification of endometrial cancers with high microsatellite instability or no specific molecular profile.Frontiers in oncology · 2023Article
- High Frequency of Microsatellite Instability among Non-Metastatic Gastric Cancer.International journal of hematology-oncology and stem cell research · 2022Article
- Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- STR Profiling Reveals Tumor Genome Instability in Primary Mediastinal B-Cell Lymphoma.Current oncology (Toronto, Ont.) · 2022Article
- Comparison of the Idylla™ MSI assay with the Promega™ MSI Analysis System and immunohistochemistry on formalin-fixed paraffin-embedded tissue of endometrial carcinoma: results from an international, multicenter study.Virchows Archiv : an international journal of pathology · 2022Article
- Pancancer Analysis of RevealedDisease markers · 2022Article
Corrections and comments
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA replication errors that persist as mismatch mutations make up the molecular fingerprint of mismatch repair (MMR)-deficient tumors and convey them with resistance to standard therapy. Using whole-genome and whole-exome sequencing, we here confirm an MMR-deficient mutation signature that is distinct from other tumor genomes, but surprisingly similar to germ-line DNA, indicating that a substantial fraction of human genetic variation arises through mutations escaping MMR. Moreover, we identify a large set of recurrent indels that may serve to detect microsatellite instability (MSI). Indeed, using endometrial tumors with immunohistochemically proven MMR deficiency, we optimize a novel marker set capable of detecting MSI and show it to have greater specificity and selectivity than standard MSI tests. Additionally, we show that recurrent indels are enriched for the 'DNA double-strand break repair by homologous recombination' pathway. Consequently, DSB repair is reduced in MMR-deficient tumors, triggering a dose-dependent sensitivity of MMR-deficient tumor cultures to DSB inducers.
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