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Updated: Feb 11, 2026

A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer
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A Genetically Engineered Mouse Model of Sporadic Colorectal Cancer

Published on: July 6, 2017

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Analysis of MSH2 Loss of Heterozygosity, Expression, and IVS10+12G>A Polymorphism in Sporadic Colon Cancer

Tamara Cacev1, Emilija Zapletal2, Vesna Musani2

  • 1Division of Molecular Medicine, Rudjer Boskovic Institute, Zagreb, Croatia tcacev@irb.hr.

Anticancer Research
|May 2, 2018
PubMed
Abstract

Insights

MutS homolog 2 (MSH2) deficiency is linked to sporadic colon cancer development. Altered MSH2 expression in tumors suggests its role in colorectal tumorigenesis, independent of hereditary factors.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • MutS homolog 2 (MSH2) deficiency is implicated in microsatellite instability in sporadic colorectal tumors.
  • MSH2 dysfunction can arise from mutations, loss of heterozygosity, or polymorphisms affecting gene expression.
  • Understanding MSH2 status is crucial for sporadic colon cancer research.

Purpose of the Study:

  • To investigate the status of MSH2 in sporadic colon cancer.
  • To correlate MSH2 alterations with tumor characteristics.
  • To explore the role of MSH2 in sporadic colorectal tumorigenesis.

Main Methods:

  • MSH2 status assessed via DNA (loss of heterozygosity - LOH), RNA (quantitative real-time PCR), and protein (immunohistochemistry) levels.
  • MSH2 IVS10+12A>G polymorphism analyzed using real-time single nucleotide polymorphism genotyping.
  • Tumor size and corresponding normal mucosa analyzed for MSH2 expression patterns.

Main Results:

  • MSH2 LOH was more prevalent in colon tumors exceeding 5 cm (p=0.032).
  • Significantly lower MSH2 mRNA expression was observed in tumors and corresponding normal mucosa (p=0.013, p=0.008).
  • No association found between the MSH2 IVS10+12A>G polymorphism and sporadic colon cancer susceptibility.

Conclusions:

  • Altered MSH2 expression is detected in sporadic colon tumors.
  • These findings highlight MSH2's role in colorectal tumorigenesis.
  • The study suggests MSH2 alterations in sporadic colon cancer occur without a hereditary component.
Keywords:
IVS10+12G>ALOHMSH2 geneimmunohistochemistrymRNA expressionsporadic colon cancer

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