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BioMed Research International
Volume 2013, Article ID 379438, 7 pages
Research Article

Paired Ductal Carcinoma In Situ and Invasive Breast Cancer Lesions in the D-Loop of the Mitochondrial Genome Indicate a Cancerization Field Effect

1Mitomics Inc., 290 Munro Street, Suite 1000, Thunder Bay, ON, Canada P7A 7T1
2Department of Surgery, Thunder Bay Regional Health Sciences Centre, 980 Oliver Road, Thunder Bay, ON, Canada P7B 6V4
3Mitomics Inc., UK Ltd. Cels At Newcastle, Medical School, University of Newcastle, Framlington Place, Newcastle Upon Tyne NE2 4HH, UK
4Department of Pathology, Saint Mary's Duluth Clinic, 400 East Third Street, Duluth, MN 55805, USA

Received 6 July 2012; Accepted 26 September 2012

Academic Editor: John Jakupciak

Copyright © 2013 Andrea Maggrah et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Alterations in the mitochondrial genome have been chronicled in most solid tumors, including breast cancer. The intent of this paper is to compare and document somatic mitochondrial D-loop mutations in paired samples of ductal carcinoma in situ (DCIS) and invasive breast cancer (IBC) indicating a potential breast ductal epithelial cancerization field effect. Paired samples of these histopathologies were laser-captured microdissected (LCM) from biopsy, lumpectomy, and mastectomy tissues. Blood samples were collected as germplasm control references. For each patient, hypervariable region 1 (HV1) in the D-loop portion of the mitochondrial genome (mtGenome) was sequenced for all 3 clinical samples. Specific parallel somatic heteroplasmic alterations between these histopathologies, particularly at sites 16189, 16223, 16224, 16270, and 16291, suggest the presence of an epithelial, mitochondrial cancerization field effect. These results indicate that further characterization of the mutational pathway of DCIS and IBC may help establish the invasive potential of DCIS. Moreover, this paper indicates that biofluids with low cellularity, such as nipple aspirate fluid and/or ductal lavage, warrant further investigation as early and minimally invasive detection mediums of a cancerization field effect within breast tissue.