Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)7623-7626
Number of pages4
JournalCancer Research
Issue number20
StatePublished - Oct 15 2001

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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