A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer

Cancer Genet Cytogenet. 2008 Apr 15;182(2):136-9. doi: 10.1016/j.cancergencyto.2008.01.011.

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MSH2, are associated with the clinical phenotype of HNPCC. A previously unreported, novel missense mutation in exon 3 of the MSH2 gene (c.380A>T) was identified in the proband and a different missense mutation in exon 3 of MSH2 gene (c.505A>G) was noted in the mother, with a mutual splice mutation in intron 12 of the MSH2 gene in the proband, mother, and younger brother. Here, we report the clinical implications of a novel mutation in a patient with early-onset colorectal cancer and the significance of a common underlying splice site mutation occurring within a family with HNPCC.

MeSH terms

  • Adenocarcinoma / epidemiology
  • Adenocarcinoma / genetics*
  • Aged
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Mismatch Repair
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Korea / epidemiology
  • Male
  • Middle Aged
  • MutS Homolog 2 Protein / genetics*
  • Mutation, Missense / genetics*

Substances

  • MSH2 protein, human
  • MutS Homolog 2 Protein