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Female germline  BRCA  gene mutation carriers are at increased risk for developing breast cancer. The purpose of our study was to establish whether healthy  BRCA  mutation carriers demonstrate an increased frequency of aberrant gene promoter hypermethylation in ductal lavage (DL) fluid, compared with predictive genetic test negative controls ,  that might serve as a surrogate marker of  BRCA1/2  mutation status and/or breast cancer risk.    Methods  The pattern of CpG island hypermethylation within the promoter region of a panel of four genes ( RAR-β ,  HIN-1 ,  Twist  and  Cyclin D2 ) was assessed by methylation-specific polymerase chain reaction using free DNA extracted from DL fluid.    Results  Fifty-one DL samples from 24 healthy women of known  BRCA  mutation status (7  BRCA1  mutation carriers, 12  BRCA2  mutation carriers and 5 controls) were available for methylation analysis. Eight of 19 (42.1%)  BRCA  mutation carriers were found to have at least one hypermethylated gene in the four-gene panel. Two  BRCA  mutation carriers, in whom aberrant methylation was found, also had duct epithelial cell atypia identified. No hypermethylation was found in DL samples from 5 negative controls( p  = 0.13).    Conclusion  We found substantial levels of aberrant methylation, with the use of a four-gene panel, in the fluid from the breasts of healthy  BRCA  mutation carriers compared with controls. Methylation analysis of free DNA in DL fluid may offer a useful surrogate marker for  BRCA1/2  mutation status and/or breast cancer risk. Further studies are required for the evaluation of the specificity and predictive value of aberrant methylation in DL fluid for future breast cancer development in  BRCA1/2  mutation carriers.

Gene promoter hypermethylation in ductal lavage fluid from healthy BRCAgene mutation carriers and mutation-negative controls