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Related Experiment Video

Updated: Jun 3, 2026

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
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PCR analysis of microsatellite instability.

G L Hirst1

  • 1CRC Department of Medical Oncology, Beatson Laboratories, University of Glasgow, Glasgow, UK.

Methods in Molecular Medicine
|March 5, 2011
PubMed
Summary

Microsatellite instability, characterized by changes in DNA repeat sequences, is a key feature observed in various cancers. This genetic instability also plays a role in certain inherited diseases.

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Circulating tumor DNA in neoadjuvant-treated breast cancer reflects response and survival.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • Microsatellites are repetitive DNA sequences abundant in the human genome.
  • Their polymorphic nature makes them valuable genetic markers.
  • Commonly found as CA/GT repeats, they are estimated to occur around 100,000 times in the human genome.

Purpose of the Study:

  • To review the phenomenon of microsatellite instability.
  • To highlight its association with various tumor types.
  • To discuss its role in certain genetic disorders.

Main Methods:

  • Literature review of studies on microsatellite instability.
  • Analysis of findings related to microsatellite sequences in tumors and diseases.

Main Results:

  • Microsatellite instability, involving expansion or contraction of repeat sequences, was first reported in colorectal tumors.
  • This instability has since been identified in lung, breast, stomach, endometrium, and bladder cancers.
  • Instability in trinucleotide repeats is linked to diseases like Fragile X syndrome, myotonic dystrophy, and Huntington's Disease.

Conclusions:

  • Microsatellite instability is a significant genetic alteration observed across a spectrum of cancers.
  • The study underscores the broad implications of microsatellite alterations in both oncogenesis and inherited neurological disorders.

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