Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.

@article{CoolbaughMurphy2010MicrosatelliteII,
  title={Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.},
  author={Mary Irene Coolbaugh-Murphy and Jianping Xu and Louis S. Ramagli and Brian C Ramagli and Barry W. Brown and PatrickM. Lynch and Stanley R. Hamilton and Marsha L. Frazier and Michael J. Siciliano},
  journal={Human mutation},
  year={2010},
  volume={31 3},
  pages={
          317-24
        }
}
Most hereditary nonpolyposis colorectal cancer (HNPCC) patients inherit a defective allele of a mismatch repair (MMR) gene, usually MLH1 or MSH2, resulting in high levels of microsatellite instability (MSI-H) in the tumors. Presence of MSI in the normal tissues of mutation carriers has been controversial. Here we directly compare MSI in the peripheral blood leukocyte (PBL) DNA of seven HNPCC patients carrying different types of pathogenic MMR mutations in MLH1 and MSH2 genes with the PBL DNA of… CONTINUE READING
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