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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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
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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...
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Viral Mutations00:36

Viral Mutations

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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...
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Mutation, Gene Flow, and Genetic Drift01:09

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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).
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Updated: Jan 20, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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STAG Mutations in Cancer.

Laura Romero-Pérez1, Didier Surdez2, Erika Brunet3

  • 1Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, Munich, Germany.

Trends in Cancer
|August 19, 2019
PubMed
Summary
This summary is machine-generated.

Stromal Antigen 1 and 2 (STAG1/2) are crucial for cell functions including DNA repair. Alterations in these cohesin genes are frequent in cancer, with STAG2 mutations being most common, suggesting therapeutic potential.

Keywords:
STAG1STAG2cancerchromosomal instabilitycohesingenome organization

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Area of Science:

  • Molecular Biology
  • Genetics
  • Cancer Research

Background:

  • Stromal Antigen 1 and 2 (STAG1/2) are essential subunits of the cohesin complex.
  • The cohesin complex regulates sister chromatid cohesion, DNA repair, and gene transcription.
  • Genetic alterations in cohesin-associated genes are observed in a significant portion of cancer patients.

Purpose of the Study:

  • To comprehensively review the physiological and disease-related functions of STAG1/2.
  • To analyze omics data for STAG alterations across various cancers.
  • To explore therapeutic intervention opportunities targeting STAG1/2.

Main Methods:

  • Literature review of STAG1/2 functions.
  • Integrative analysis of The Cancer Genome Atlas (TCGA) data.
  • Analysis of omics data from 53,691 cancer patients and 1067 cell lines.

Main Results:

  • STAG1/2 are vital for genome stability and regulation.
  • Cohesin gene alterations occur in up to 26% of TCGA patients.
  • STAG2 exhibits the highest frequency of driver truncating mutations among cohesin genes.

Conclusions:

  • STAG1/2 play critical roles in human health and disease, particularly cancer.
  • STAG alterations represent a common event in cancer, with STAG2 being frequently mutated.
  • Understanding STAG1/2 functions and alterations may reveal new therapeutic strategies for cancer treatment.