The impact of mitochondria-related POLG and TFAM variants on breast cancer pathomorphological characteristics and patient outcomes

References

• Anaconda Software Distribution 2016. Computer software Vers. 2-2.4.0. Anaconda. Web. Available from: https://anaconda.com [Accessed 26 October 2019].
   Google Scholar
• Chan, S.S.L., Longley, M.J., and Copeland, W.C., 2006. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. Human molecular genetics, 15 (23), 3473–3483.
   PubMed Web of Science ®Google Scholar
• Davidson-Pilon, C., et al., 2019. CamDavidsonPilon/lifelines: v0.20.3. Zenodo. Available from: https://doi.org/10.5281/zenodo.2604107
   Google Scholar
• Dawood, S., et al., 2010. Survival differences among women with de novo stage IV and relapsed breast cancer. Annals of oncology, 21 (11), 2169–2174.
   PubMed Web of Science ®Google Scholar
• Ferlay, J., et al., 2019. Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods. International journal of cancer, 144 (8), 1941–1953.
   PubMed Web of Science ®Google Scholar
• Gallegos-Arreola, M.P., et al., 2015. Association of the Alu insertion polymorphism in the progesterone receptor gene with breast cancer in a Mexican population. Archives of medical science : AMS, 11 (3), 551–560.
   PubMed Web of Science ®Google Scholar
• González-Vioque, E., et al., 2006. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Archives of neurology, 63 (1), 107–111.
   PubMedGoogle Scholar
• Granados, J.B., et al., 2017. Association of a TFAM haplotype with aggressive prostate cancer in overweight or obese Mexican Mestizo men. Urologic oncology, 35 (3), 111.e9–e14.
   Web of Science ®Google Scholar
• Grupe, A., et al., 2006. A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease. The american journal of human genetics, 78 (1), 78–88.
   PubMed Web of Science ®Google Scholar
• Gui, Y., et al., 2012. Association of Mitochondrial DNA Polymerase γ Gene POLG1 Polymorphisms with Parkinsonism in Chinese Populations. PLoS ONE, 7 (12), e50086.
   PubMed Web of Science ®Google Scholar
• Günther, C., et al., 2004. Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease. Neuroscience letters, 369 (3), 219–223.
   PubMed Web of Science ®Google Scholar
• Hakonen, A.H., et al., 2007. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. European journal of human genetics: EJHG, 15 (7), 779–783.
   PubMed Web of Science ®Google Scholar
• Hakonen, A.H., et al., 2005. Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin. American journal of human genetics, 77 (3), 430–441.
   PubMed Web of Science ®Google Scholar
• Iranpur-Mobarakeh, V., Esmailizadeh, A.K. 2010. Rapid Extraction of High Quality DNA from Whole Blood Stored at 4 °C for Long Period. Available from: http://www.protocol-online.org/prot/Protocols/Rapid-Extraction-of-High-Quality-DNA-from-Whole-Blood-Stored-at-4-C-for-Long-Period-4175.html
   Google Scholar
• Kluyver, T., et al.,; Carol and Jupyter Development Team. 2016, Jupyter Notebooks – a publishing format for reproducible computational workflows. In Loizides, Fernando and Scmidt, Birgit (eds.) Positioning and Power in Academic Publishing: Players, Agents and Agendas. IOS Press. pp. 87–90. Available from: http://dx.doi.org/10.3233/978-1-61499-649-1-87.
   Google Scholar
• Lee, H.-C., and Wei, Y.-H., 2009. Mitochondrial DNA instability and metabolic shift in human cancers. International journal of molecular sciences, 10 (2), 674–701.
   PubMed Web of Science ®Google Scholar
• Li, D., et al., 2012. Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer. Carcinogenesis, 33 (7), 1384–1390.
   PubMed Web of Science ®Google Scholar
• Linkowska, K., et al., 2015. Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer. Annals of human genetics, 79 (5), 320–328.
   PubMed Web of Science ®Google Scholar
• Li, X., et al., 2016. MtDNA depleted PC3 cells exhibit Warburg effect and cancer stem cell features. Oncotarget, 7 (26), 40297–40313.
   PubMedGoogle Scholar
• Mordukhovich, I., et al., 2016. Polymorphisms in DNA repair genes, traffic-related polycyclic aromatic hydrocarbon exposure and breast cancer incidence. International journal of cancer, 139 (2), 310–321.
   PubMed Web of Science ®Google Scholar
• Nie, H., et al., 2013. Mitochondrial Common Deletion, a Potential Biomarker for Cancer Occurrence, Is Selected against in Cancer Background: A Meta-Analysis of 38 Studies. PLoS one, 8 (7), e67953.,
   PubMed Web of Science ®Google Scholar
• Palacín, M., et al., 2011. Mitochondrial DNA and TFAM gene variation in early-onset myocardial infarction: Evidence for an association to haplogroup H. Mitochondrion, 11 (1), 176–181.
   PubMed Web of Science ®Google Scholar
• Seibold, P., et al., 2015. A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients. BMC cancer, 15 (1), 978.,
   PubMedGoogle Scholar
• Seyfried, T.N., 2015. Cancer as a mitochondrial metabolic disease. Frontiers in cell and developmental biology, 3, 43.
   PubMed Web of Science ®Google Scholar
• Singh, K.K., et al., 2009. Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis. Journal of human genetics, 54 (9), 516–524.
   PubMed Web of Science ®Google Scholar
• Taherzadeh-Fard, E., et al., 2011. PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease. Molecular neurodegeneration, 6 (1), 32.
   PubMedGoogle Scholar
• Tan, D.-J., Bai, R.-K., and Wong, L.-J.C., 2002. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer research, 62 (4), 972–976.
   PubMed Web of Science ®Google Scholar
• The 1000 Genomes Project Consortium 2015. A global reference for human genetic variation. Nature, 526, 68–74. Available from: https://doi.org/10.1038/nature15393 [Accessed 26 October 2019].
   PubMed Web of Science ®Google Scholar
• van Gisbergen, M.W., et al., 2015. How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models. Mutation research. Reviews in mutation research, 764, 16–30.
   PubMed Web of Science ®Google Scholar
• Warburg, O., 1956. On respiratory impairment in cancer cells. Science (science.), 124 (3215), 269–270.
   PubMed Web of Science ®Google Scholar
• Wei, H., et al., 2012. Association of Polymorphisms in Oxidative Stress Genes with Clinical Outcomes for Bladder Cancer Treated with Bacillus Calmette-Guérin. PLoS one, 7 (6), e38533.,
   PubMed Web of Science ®Google Scholar
• Zhang, Q., et al., 2011. Mitochondrial transcription factor A (TFAM) polymorphisms and risk of late-onset Alzheimer's disease in Han Chinese. Brain research, 1368, 355–360.
   PubMed Web of Science ®Google Scholar