Molecular analysis: microsatellity instability and loss of heterozygosity of tumor suppressor gene in hereditary non-polyposis colorectal cancers (HNPCC)

Bosn J Basic Med Sci. 2009 Feb;9(1):10-8. doi: 10.17305/bjbms.2009.2850.

Abstract

HNPCC (Hereditary non-polyposis colorectal cancers) development is caused by mutation of genes included in system of mismatch repair genes. The mutation exists at 60% of patients in hMSH2 gene, 30% in hMLH1 and 10% both in hPMS1and hPMS2 genes. RER+ exists in about 90% in hereditary non-polyposis colorectal cancer and about 15-28% in sporadic cancers. The purpose of the study was to determine highly sensitive microsatellite markers which can be fast and efficient way of microsatellite screening for detection of HNPCC patients. Moreover, we have analysed the loss of heterozygosity of tumour suppressor genes which could have the diagnostic value in detection of HPNCC patients.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adenocarcinoma / genetics*
  • Adenosine Triphosphatases / genetics
  • Adult
  • Case-Control Studies
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Repair Enzymes / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Genes, Tumor Suppressor*
  • Genetic Testing
  • Humans
  • Loss of Heterozygosity / genetics*
  • Male
  • Microsatellite Instability*
  • Middle Aged
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • MutL Proteins
  • MutS Homolog 2 Protein / genetics
  • Neoplasm Proteins / genetics
  • Nuclear Proteins / genetics
  • Nucleotides / genetics
  • Sensitivity and Specificity

Substances

  • Adaptor Proteins, Signal Transducing
  • DNA-Binding Proteins
  • MLH1 protein, human
  • Neoplasm Proteins
  • Nuclear Proteins
  • Nucleotides
  • PMS1 protein, human
  • Adenosine Triphosphatases
  • PMS2 protein, human
  • MSH2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • MutL Proteins
  • MutS Homolog 2 Protein
  • DNA Repair Enzymes