Mitochondrial DNA variants and risk of familial breast cancer: An exploratory study

Stefania Tommasi, Paola Favia, Stefania Weigl, Angelica Bianco, Brunella Pilato, Luciana Russo, Angelo Paradiso, Vittoria Petruzzella

Research output: Contribution to journalArticlepeer-review


To assess if mitochondrial DNA (mtDNA) vari- variants are associated with mutations in BRCA susceptibility genes and to investigate the possible role of mitochondrial alterations as susceptibility markers in familial breast cancer (BC), 22 patients with or without BRCA1/BRCA2 mutations, 14 sporadic BC patients and 20 healthy subjects were analyzed. In the D-loop and in the MTND4 region, variants significantly associated with BRCA1 carriers were identified. Moreover, examination of mitochondrial haplogroups revealed X as the most significantly frequent haplogroup in BRCA1 carriers (P=0.005), and H as significantly linked to BRCA2 carriers (P=0.05). Our data suggest the involvement of the mitochondrial genome in the pathogenetic and molecular mechanism of familial BC disease.

Original languageEnglish
Pages (from-to)1691-1698
Number of pages8
JournalInternational Journal of Oncology
Issue number5
Publication statusPublished - 2014


  • BRCA1
  • BRCA2
  • D-loop
  • Hereditary breast cancer
  • Mitochondrial DNA
  • MTND4

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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