ArticleBiomedicines2020
MSH2 Overexpression Due to an Unclassified Variant in 3'-Untranslated Region in a Patient with Colon Cancer.
Article in Biomedicines, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 11 citations in OpenAlex.
- Mixture design as a tool for improving full-to-empty particle ratios across various GOIs in rAAV production.Gene therapy · 2026Article
- MRE11A: a novel negative regulator of human DNA mismatch repair.Cellular & molecular biology letters · 2024Article
- Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients.BMC gastroenterology · 2024Article
- Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice.Cancers · 2023Review
- Review
- Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.International journal of molecular medicine · 2022Article
- MiR-137 Targets the 3' Untranslated Region ofCancers · 2021Article
- Analysis of the Expression and Prognostic Value of MSH2 in Pan-Cancer Based on Bioinformatics.BioMed research international · 2021Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundThe loss or low expression of DNA mismatch repair (MMR) genes can result in genomic instability and tumorigenesis. One such gene, MSH2, is mutated or rearranged in Lynch syndrome (LS), which is characterized by a high risk of tumor development, including colorectal cancer. However, many variants identified in this gene are often defined as variants of uncertain significance (VUS). In this study, we selected a variant in the 3' untranslated region (UTR) of MSH2 (c*226A > G), identified in three affected members of a LS family and already reported in the literature as a VUS.
methodsThe effect of this variant on the activity of the MMR complex was examined using a set of functional assays to evaluate MSH2 expression.
resultsWe found MSH2 was overexpressed compared to healthy controls, as determined by RTqPCR and Western blot analyses of total RNA and proteins, respectively, extracted from peripheral blood samples. These results were confirmed by luciferase reporter gene assays.
conclusionsWe therefore speculated that, in addition to canonical inactivation via a gene mutation, MMR activity may also be modulated by changes in MMR gene expression.
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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.