Related Experiment Video
Updated: Jan 23, 2026
07:47
Author Spotlight: Unveiling Transmembrane Protein Family-Related Markers in Gastric Cancer and Implications for Targeted Therapies
Published on: September 15, 2023
2.2K
A pan-cancer analysis of synonymous mutations
Yogita Sharma1,2,3, Milad Miladi4, Sandeep Dukare5,6
1Division of Cancer Research, Department of Thoracic Surgery, Medical Center, University of Freiburg, 79085, Freiburg, Germany.
Nature Communications
|June 14, 2019
Summary
Synonymous mutations, previously considered silent, significantly impact cancer development by affecting RNA stability and protein folding. A new database, SynMICdb, catalogs these mutations and their properties for cancer research.
Area of Science:
- Genomics
- Cancer Biology
- Bioinformatics
Background:
- Synonymous mutations alter DNA/mRNA but not protein sequence, historically deemed silent.
- Emerging evidence highlights their roles in splicing, RNA stability, folding, and translation.
- Understanding these mutations is crucial for cancer research.
Purpose of the Study:
- To compile and characterize synonymous mutations in human cancer.
- To develop a comprehensive, user-friendly database (SynMICdb) for these mutations.
- To investigate the properties and distribution of synonymous mutations in cancer.
Main Methods:
- Collected 659,194 synonymous mutations from human cancer data.
- Integrated gene annotation, recurrence, mutation loads, cancer association, conservation, and alternative events.
- Analyzed impact on mRNA structure and developed a SynMICdb score.
- Examined mutation distribution relative to coding sequence and exon ends.
- Investigated patient-derived synonymous mutations in KRAS.
Main Results:
- SynMICdb provides a comprehensive resource for synonymous mutations in cancer.
- Synonymous and missense mutations show depletion at the 5'-end of coding sequences and exon ends.
- Patient-derived synonymous mutations in KRAS impact gene expression and mRNA secondary structure.
Conclusions:
- Synonymous mutations are not silent and play a significant role in cancer.
- SynMICdb offers valuable insights into the functional impact of synonymous mutations.
- Further research into synonymous mutations can reveal novel cancer mechanisms and therapeutic targets.
Related Concept Videos
01:39Mutations
94.4K
Overview
94.4K
01:35Mutations
44.1K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.1K
02:21Cancers Originate from Somatic Mutations in a Single Cell
14.7K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
14.7K
00:36Viral Mutations
39.8K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.8K
01:21Cancer Survival Analysis
657
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
657
01:09Mutation, Gene Flow, and Genetic Drift
63.3K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
63.3K