ArticleCancers2019
Somatic Mutations in miRNA Genes in Lung Cancer-Potential Functional Consequences of Non-Coding Sequence Variants.
Article in Cancers, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- COVID-19, Anti-NMDA Receptor Encephalitis and MicroRNA.Frontiers in immunology · 2022Pooled it
- miRNA gene mutations commonly disrupt the proper functioning of miRNA genes.Science advances · 2026Article
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.Nucleic acids research · 2025Article
- Parameters of clustered suboptimal miRNA biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Liquid Biopsy for Lung Cancer: Up-to-Date and Perspectives for Screening Programs.International journal of molecular sciences · 2023Review
- Article
- Mutations in the miR-142 gene are not common in myeloproliferative neoplasms.Scientific reports · 2022Article
- CRISPRi for specific inhibition of miRNA clusters and miRNAs with high sequence homology.Scientific reports · 2022Article
- Elucidating miRNA Function in Cancer Biology via the Molecular Genetics' Toolbox.Biomedicines · 2022Review
- Review
- miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing.STAR protocols · 2022Article
- Inside the chronic lymphocytic leukemia cell: miRNA and chromosomal aberrations.Molecular medicine reports · 2022Article
- miRTarBase update 2022: an informative resource for experimentally validated miRNA-target interactions.Nucleic acids research · 2022Article
- Consequences of genetic variants in miRNA genes.Computational and structural biotechnology journal · 2022Review
- MicroRNAs, Multiple Sclerosis, and Depression.International journal of molecular sciences · 2021Review
- MicroRNAs, Parkinson's Disease, and Diabetes Mellitus.International journal of molecular sciences · 2021Review
- ReCGBM: a gradient boosting-based method for predicting human dicer cleavage sites.BMC bioinformatics · 2021Article
- A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.Nucleic acids research · 2021Article
- SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes.Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
A growing body of evidence indicates that miRNAs may either drive or suppress oncogenesis. However, little is known about somatic mutations in miRNA genes. To determine the frequency and potential consequences of miRNA gene mutations, we analyzed whole exome sequencing datasets of 569 lung adenocarcinoma (LUAD) and 597 lung squamous cell carcinoma (LUSC) samples generated in The Cancer Genome Atlas (TCGA) project. Altogether, we identified 1091 somatic sequence variants affecting 522 different miRNA genes and showed that half of all cancers had at least one such somatic variant/mutation. These sequence variants occurred in most crucial parts of miRNA precursors, including mature miRNA and seed sequences. Due to our findings, we hypothesize that seed mutations may affect miRNA:target interactions, drastically changing the pool of predicted targets. Mutations may also affect miRNA biogenesis by changing the structure of miRNA precursors, DROSHA and DICER cleavage sites, and regulatory sequence/structure motifs. We identified 10 significantly overmutated hotspot miRNA genes, including the miR-379 gene in LUAD enriched in mutations in the mature miRNA and regulatory sequences. The occurrence of mutations in the hotspot miRNA genes was also shown experimentally. We present a comprehensive analysis of somatic variants in miRNA genes and show that some of these genes are mutational hotspots, suggesting their potential role in cancer.
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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.