Mutations in the DNA Mismatch Repair Gene MLH1 Associated With Early-Onset Colon Cancer

J Pediatr. 2006 Jun;148(6):837-9. doi: 10.1016/j.jpeds.2006.01.009.


Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant disorder characterized by the predisposition to develop a number of cancers, especially colorectal cancer (CRC). We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adenocarcinoma / genetics*
  • Carrier Proteins / genetics*
  • Child
  • Chromosomal Instability
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Repair / genetics*
  • Germ-Line Mutation*
  • Humans
  • Male
  • Microsatellite Repeats
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein / genetics
  • Nuclear Proteins / genetics*
  • Sigmoid Neoplasms / genetics*


  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • MLH1 protein, human
  • Nuclear Proteins
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein