Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer
1999

Loss of Genetic Diversity in Breast Cancer

Sample size: 22 publication Evidence: moderate

Author Information

Author(s): Benachenhou N, Guiral S, Gorska-Flipot I, Labuda D, Sinnett D

Primary Institution: Charles Bruneau Cancer Center, Ste-Justine Hospital, Montreal, Québec, Canada

Hypothesis

Are DNA mismatch-repair genes involved in sporadic breast cancer?

Conclusion

The study suggests that hMLH1 and hMSH3 may play a role in breast cancer development through mechanisms other than correcting replication errors.

Supporting Evidence

  • 46% of patients had hemizygous deletions at the hMLH1 locus.
  • 23% of patients had hemizygous deletions at the hMSH3 locus.
  • Half of the patients with deletions at hMLH1 also had deletions at hMSH3.
  • No breast cancers examined displayed microsatellite instability.

Takeaway

Scientists looked at DNA from breast cancer patients and found some important genes missing, which might help explain how the cancer develops.

Methodology

Matched normal and tumoral DNA samples were analyzed for genetic instability and loss of heterozygosity using 42 microsatellites.

Limitations

The exact consequences of the allelic losses are unclear, as none of the cancers showed microsatellite instability.

Participant Demographics

Patients with sporadic breast cancer.

Digital Object Identifier (DOI)

10.1038/sj.bjc.6690162

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