BRAF mutation is associated with the CpG island methylator phenotype in colorectal cancer from young patients

Cancer Lett. 2009 Jan 18;273(2):221-4. doi: 10.1016/j.canlet.2008.08.001. Epub 2008 Sep 7.

Abstract

This study investigated the relationship between BRAF mutation, the CpG island methylator phenotype (CIMP+) and APC methylation in colorectal cancer (CRC) from young patients. The V600E BRAF mutation was found in 7% of cases and was strongly associated with the tumour features of proximal site, advanced stage and poor histological grade. More than half (53%) the tumours with BRAF mutation were also CIMP+ as evaluated by a standard panel of markers, compared to only 4% of tumours with wildtype BRAF (P<0.0001). In contrast to CIMP+, APC methylation was inversely correlated with BRAF mutation (P=0.02). BRAF mutation and CIMP+ are therefore likely to be involved in an alternate, albeit rare, pathway to APC inactivation during the development of CRC in younger patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / metabolism
  • CpG Islands*
  • DNA Methylation*
  • Female
  • Humans
  • Male
  • Microsatellite Instability
  • Microsatellite Repeats
  • Middle Aged
  • Phenotype
  • Proto-Oncogene Proteins B-raf / genetics*

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf