title: BRAF mutation is associated with the CpG island methylator phenotype in colorectal cancer from young patients.
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.
authors.affiliation: School of Surgery M507, University of Western Australia, 35 Stirling Hwy, Nedlands 6009, Australia.
authors.forename: Pei Woon
authors.initials: PW
authors.lastname: Ang
authors.forename: Wei Qi
authors.initials: WQ
authors.lastname: Li
authors.forename: Richie
authors.initials: R
authors.lastname: Soong
authors.forename: Barry
authors.initials: B
authors.lastname: Iacopetta
mesh_terms: D000328:Adult; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000378:metabolism; D018899:CpG Islands; D019175:DNA Methylation; D005260:Female; D006801:Humans; D008297:Male; D053842:Microsatellite Instability; D018895:Microsatellite Repeats; D008875:Middle Aged; D010641:Phenotype; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf