Colonic cancer in a 34-yr-old woman: should it prompt microsatellite instability studies and mismatch repair gene testing?

Am J Gastroenterol. 1998 Oct;93(10):1991-2. doi: 10.1111/j.1572-0241.1998.00565.x.

Abstract

It remains debatable whether young patients with colorectal tumors should undergo genetic testing with the aim of identifying new hereditary nonpolyposis colorectal cancer families. We describe a case of a young woman with colon cancer with no clinical criteria of hereditary nonpolyposis colorectal cancer, whose genetic analysis showed that the tumor displayed microsatellite instability, and in whom a truncated protein in hMSH2 gene was found, which was also present in two at-risk relatives.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Colonic Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Repair / genetics*
  • DNA-Binding Proteins*
  • Female
  • Humans
  • Microsatellite Repeats*
  • MutS Homolog 2 Protein
  • Mutation
  • Pedigree
  • Proto-Oncogene Proteins / genetics
  • Risk Factors

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • MSH2 protein, human
  • MutS Homolog 2 Protein