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Background  Recently it has been suggested that acquisition of methylation of the  BRCA1  promoter detectable in peripheral blood (PB) DNA, could give raise to development of breast cancer. In this study, we aimed to investigate a relationship between methylation of three breast cancer related genes in PB DNA, and tumor specific (somatic) methylation of these genes in the same individual.    Findings  We have examined methylation status of the  BRCA1, APC  and  RASSF1A  promoter regions in a panel of 75 breast tumor and PB DNA samples from the same individual. In our study group, 4.0% of the patients displayed methylation of  BRCA1  and  APC  in both tumor and the corresponding PB DNA. At the same time despite of marked methylation in tumor DNA, no methylation of  BRCA1  and  APC  was seen in PB DNA of 4.3% and 2.7% of the patients respectively. The  RASSF1A  promoter did not show methylation in PB DNA.    Conclusions  Our results show that for at least a subset of cancer patients methylation of certain cancer related genes in PB DNA does not seem to be directly linked to somatic methylation of the same genes in tumor DNA, and therefore may only be specific to PB DNA.

Methylation of cancer related genes in tumor and peripheral blood DNA from the same breast cancer patient as two independent events