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[Cancer Research 61, 7623-7626, October 15, 2001]
© 2001 American Association for Cancer Research

Molecular Biology and Genetics

Detection of Mitochondrial DNA Mutations in Primary Breast Cancer and Fine-Needle Aspirates1

Paola Parrella, Yan Xiao, Makiko Fliss, Montserrat Sanchez-Cespedes, Paola Mazzarelli, Monica Rinaldi, Theresa Nicol, Edward Gabrielson, Carmela Cuomo, Daniel Cohen, Sunil Pandit, Myla Spencer, Carla Rabitti, Vito Michele Fazio and David Sidransky2

Department of Otolaryngology, Head and Neck Surgery, Division of Head and Neck Cancer Research [P. P., Y. X., M. S-C., D. C., D. S.] and Department of Pathology [T. N., E. G.] Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.; Virco Lab, Inc., Johns Hopkins Bayview Research Campus, Baltimore, Maryland 21224 [M. F., S. P., M. S.]; Laboratory for Molecular Medicine and Biotechnology and Department of Pathology [C. R.], Università Campus Bio-Medico, 00155 Rome, Italy [P. M., M. R., C. C., V. M. F.]; IRCCS H. "Casa Sollievo della Sofferenza," 71013 San Giovanni Rotondo, FO66IA [V. M. F.], Italy

To determine the frequency and distribution of mitochondrial DNA mutations in breast cancer, 18 primary breast tumors were analyzed by direct sequencing. Twelve somatic mutations not present in matched lymphocytes and normal breast tissues were detected in 11 of the tumors screened (61%). Of these mutations, five (42%) were deletions or insertions in a homopolymeric C-stretch between nucleotides 303–315 (D310) within the D-loop. The remaining seven mutations (58%) were single-base substitutions in the coding (ND1, ND4, ND5, and cytochrome b genes) or noncoding regions (D-loop) of the mitochondrial genome. In three cases (25%), the mutations detected in coding regions led to amino acid substitutions in the protein sequence. We then screened an additional 46 primary breast tumors with a rapid PCR-based assay to identify poly-C alterations in D310, and we found seven more cancers with alterations. Using D310 mutations as clonal marker, we detected identical changes in five of five matched fine-needle aspirates and in four of four metastases-positive lymph nodes. The high frequency of D310 alterations in primary breast cancer combined with the high sensitivity of the PCR-based assays provides a new molecular tool for cancer detection.




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Copyright © 2001 by the American Association for Cancer Research.