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

  • Authors:
    • Stefania Tommasi
    • Paola Favia
    • Stefania Weigl
    • Angelica Bianco
    • Brunella Pilato
    • Luciana Russo
    • Angelo Paradiso
    • Vittoria Petruzzella
  • View Affiliations

  • Published online on: March 5, 2014     https://doi.org/10.3892/ijo.2014.2324
  • Pages: 1691-1698
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Abstract

To assess if mitochondrial DNA (mtDNA) 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.
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May-2014
Volume 44 Issue 5

Print ISSN: 1019-6439
Online ISSN:1791-2423

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Spandidos Publications style
Tommasi S, Favia P, Weigl S, Bianco A, Pilato B, Russo L, Paradiso A and Petruzzella V: Mitochondrial DNA variants and risk of familial breast cancer: An exploratory study. Int J Oncol 44: 1691-1698, 2014
APA
Tommasi, S., Favia, P., Weigl, S., Bianco, A., Pilato, B., Russo, L. ... Petruzzella, V. (2014). Mitochondrial DNA variants and risk of familial breast cancer: An exploratory study. International Journal of Oncology, 44, 1691-1698. https://doi.org/10.3892/ijo.2014.2324
MLA
Tommasi, S., Favia, P., Weigl, S., Bianco, A., Pilato, B., Russo, L., Paradiso, A., Petruzzella, V."Mitochondrial DNA variants and risk of familial breast cancer: An exploratory study". International Journal of Oncology 44.5 (2014): 1691-1698.
Chicago
Tommasi, S., Favia, P., Weigl, S., Bianco, A., Pilato, B., Russo, L., Paradiso, A., Petruzzella, V."Mitochondrial DNA variants and risk of familial breast cancer: An exploratory study". International Journal of Oncology 44, no. 5 (2014): 1691-1698. https://doi.org/10.3892/ijo.2014.2324