Adenomatous polyposis coli (APC) gene promoter hypermethylation in primary breast cancers

Br J Cancer. 2001 Jul 6;85(1):69-73. doi: 10.1054/bjoc.2001.1853.


Similar to findings in colorectal cancers, it has been suggested that disruption of the adenomatous polyposis coli (APC)/beta-catenin pathway may be involved in breast carcinogenesis. However, somatic mutations of APC and beta- catenin are infrequently reported in breast cancers, in contrast to findings in colorectal cancers. To further explore the role of the APC/beta-catenin pathway in breast carcinogenesis, we investigated the status of APC gene promoter methylation in primary breast cancers and in their non-cancerous breast tissue counterparts, as well as mutations of the APC and beta- catenin genes. Hypermethylation of the APC promoter CpG island was detected in 18 of 50 (36%) primary breast cancers and in none of 21 non-cancerous breast tissue samples, although no mutations of the APC and beta- catenin were found. No significant associations between APC promoter hypermethylation and patient age, lymph node metastasis, oestrogen and progesterone receptor status, size, stage or histological type of tumour were observed. These results indicate that APC promoter CpG island hypermethylation is a cancer-specific change and may be a more common mechanism of inactivation of this tumour suppressor gene in primary breast cancers than previously suspected.

MeSH terms

  • Adult
  • Alleles
  • Breast Neoplasms / genetics*
  • CpG Islands
  • Cytoskeletal Proteins / genetics
  • DNA Methylation*
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / metabolism
  • Female
  • Genes, APC / genetics*
  • Humans
  • Mutation
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single-Stranded Conformational
  • Promoter Regions, Genetic*
  • Trans-Activators*
  • beta Catenin


  • CTNNB1 protein, human
  • Cytoskeletal Proteins
  • DNA, Neoplasm
  • Trans-Activators
  • beta Catenin