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Related Experiment Videos

Microsatellite instability in human solid tumors

R A Lothe1

  • 1Department of Genetics, Institute for Cancer Research, Norwegian Radium Hospital, Montebello, Oslo, Norway. rlothe@ulrik.uio.no

Molecular Medicine Today
|February 1, 1997
PubMed
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Hereditary non-polyposis colorectal cancer (HNPCC) and some sporadic tumors exhibit genome-wide instability due to mismatch repair gene mutations. This discovery offers new molecular diagnostic tools for high-risk individuals.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Hereditary non-polyposis colorectal cancer (HNPCC) is linked to a high incidence of malignant tumors.
  • Genome-wide instability, characterized by alterations in microsatellite loci, is a hallmark of HNPCC and some sporadic colorectal cancers.

Purpose of the Study:

  • To investigate the molecular basis of genome-wide instability in HNPCC and sporadic colorectal cancers.
  • To identify the genes responsible for the observed mutator phenotype.

Main Methods:

  • Analysis of microsatellite loci in tumor and germline DNA from HNPCC patients and sporadic cancer cases.
  • Sequencing of key mismatch repair genes (hMSH2, hMLH1, hPMS1, hPMS2) to identify mutations.

Main Results:

Related Experiment Videos

  • A mutator phenotype, indicated by novel alleles at microsatellite loci, was identified in most HNPCC tumors and a subset of sporadic tumors.
  • Mutations were found in the mismatch repair genes hMSH2, hMLH1, hPMS1, and hPMS2 in both germline and tumor DNA of HNPCC patients, as well as in sporadic tumors.

Conclusions:

  • Mutations in mismatch repair genes are the cause of genome-wide instability in HNPCC and contribute to sporadic colorectal carcinogenesis.
  • These findings provide novel molecular diagnostic tools for identifying individuals at high risk for colorectal cancer and other HNPCC-related tumors.