ReviewInternational journal of molecular sciences2021
Analysis and Interpretation of the Impact of Missense Variants in Cancer.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.Human mutation · 2022Pooled it
- Gestational Feed Restriction Induces Differential Expression of Novel Long Non-Coding RNAs in Offspring Skeletal Muscle.Animal genetics · 2026Article
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- Cancer-associated TRF1 mutations alter PARP1 interaction dynamics: an in silico study.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- DSSA-PPI: enhancing binding affinity change prediction upon protein mutations using disentangled structure-sequence aware attention.Chemical science · 2026Article
- Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC.Human mutation · 2026Article
- Computational screening of oncogenic genetic variations in tumor suppressor proteins driving gastric cancer pathogenesis.PloS one · 2026Article
- Unveiling the therapeutic potential of silibinin in head and neck squamous cell carcinoma via network pharmacology.Scientific reports · 2025Article
- SIRT6 Lysine-Demyristoylates ATF2 to Ameliorate Vascular Injury via PRKCD/VE-Cadherin Pathway Regulating Vascular Endothelial Barrier.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity.G3 (Bethesda, Md.) · 2025Article
- Molecular Consequences ofInternational journal of molecular sciences · 2025Article
- A random forest-based predictive model for classifying BRCA1 missense variants: a novel approach for evaluating the missense mutations effect.Journal of human genetics · 2025Article
- Article
- Pan-Cancer Analysis Identifies a Ras-Related GTPase as a Potential Modulator of Cancer.International journal of molecular sciences · 2025Article
- ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.American journal of human genetics · 2025Article
- Mass balance approximation of unfolding boosts potential-based protein stability predictions.Protein science : a publication of the Protein Society · 2025Article
- Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.Human genetics · 2025Article
- Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges.Human genetics · 2025Article
- Comprehensive computational analysis of deleterious nsSNPs inMolecular biology research communications · 2025Article
- A systematic in-silico functional and structural analysis reveals deleterious missense nsSNPs in the humanMolecular biology research communications · 2025Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Large scale genome sequencing allowed the identification of a massive number of genetic variations, whose impact on human health is still unknown. In this review we analyze, by an in silico-based strategy, the impact of missense variants on cancer-related genes, whose effect on protein stability and function was experimentally determined. We collected a set of 164 variants from 11 proteins to analyze the impact of missense mutations at structural and functional levels, and to assess the performance of state-of-the-art methods (FoldX and Meta-SNP) for predicting protein stability change and pathogenicity. The result of our analysis shows that a combination of experimental data on protein stability and in silico pathogenicity predictions allowed the identification of a subset of variants with a high probability of having a deleterious phenotypic effect, as confirmed by the significant enrichment of the subset in variants annotated in the COSMIC database as putative cancer-driving variants. Our analysis suggests that the integration of experimental and computational approaches may contribute to evaluate the risk for complex disorders and develop more effective treatment strategies.
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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.