Detection of Mitochondrial DNA Mutations in Mammary Epithelial Cells in Nipple Aspirate Fluid
Abstract
Because optimal methods have not been established for screening and early detection of breast cancer in premenopausal women, there is an urgent need for a variety of new approaches that can augment mammographic screening. We describe a method for the idolation of free DNA from ductal lavage (DL) and nipple aspirate fluid (NAF), and its evaluation for the presence of mitochondrial DNA (mtDNA) mutations at the D3l0 marker, to improve early detection of breast cancer. We evaluated 26 DL and six NAF samples form 14 women of known BRCAl status, who have no clinical evidence of breast tumors: nine mutation carriers and five non-carriers. The mitochondrial studies were possible in all 26 DL samples and a somatic mutation was found in 3/9 carriers and in none of the non-carriers. mtDNA mutation evaluation was possible in 4/6 NAF samples. The NAF and DL results were concordant. One NAF sample from a BRCAl patient showed a mtDNA mutation. Our data demonstrates the feasibility of performing these studies using the free DNA present in the ductal fluid, while the intact cells can be used for cytologic studies.
Document Details
- Document Type
- Technical Report
- Publication Date
- Sep 01, 2003
- Accession Number
- ADA423469
Entities
People
- Bassem R. Haddad
Organizations
- Georgetown University