Publication Cover
Mitochondrial DNA
The Journal of DNA Mapping, Sequencing, and Analysis
Volume 26, 2015 - Issue 2
218
Views
13
CrossRef citations to date
0
Altmetric
Research Article

Analysis of BRCA1 and mtDNA haplotypes and mtDNA polymorphism in familial breast cancer

, , , , &
Pages 227-231 | Received 06 Jun 2013, Accepted 13 Jul 2013, Published online: 28 Aug 2013

References

  • Alvarez JC, Johnson DL, Lorente JA, Martinez-Espin E, Martinez-Gonzalez LJ, Allard M, Wilson MR, Budowle B. (2007). Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set. Legal Med (Tokyo, Japan) 9:293–304
  • Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJ. (2007). Mitochondrial genetic background modifies breast cancer risk. Can Res 67:4687–94
  • Bandelt HJ, Forster P, Sykes BC, Richards MB. (1995). Mitochondrial portraits of human populations using median networks. Genetics 141:743–53
  • Cann RL, Stoneking M, Wilson AC. (1987). Mitochondrial DNA and human evolution. Nature 325:31–6
  • Canter JA, Kallianpur AR, Parl FF, Millikan RC. (2005). Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res 65:8028–33
  • Castro MG, Huerta C, Reguero JR, Soto MI, Domenech E, Alvarez V, Gomez-Zaera M, et al. (2006). Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy. Int J Cardiol 112:202–6
  • Cavalli-Sforza LL, Wilson AC, Cantor CR, Cook-Deegan RM, King MC. (1991). Call for a worldwide survey of human genetic diversity: A vanishing opportunity for the Human Genome Project. Genomics 11:490–1
  • Czarnecka AM, Krawczyk T, Zdrozny M, Lubinski J, Arnold RS, Kukwa W, Scinska A, et al. (2010). Mitochondrial NADH-dehydrogenase subunit 3 (ND3) polymorphism (A10398G) and sporadic breast cancer in Poland. Breast Cancer Res Treat 121:511–18
  • Darvishi K, Sharma S, Bhat AK, Rai E, Bamezai RN. (2007). Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer. Cancer Lett 249:249–55
  • Eccles DM, Evans DG, Mackay J. (2000). Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. UK Cancer Family Study Group (UKCFSG). J Med Genet 37:203–9
  • Fernandez-Caggiano M, Barallobre-Barreiro J, Rego-Perez I, Crespo-Leiro MG, Paniagua MJ, Grille Z, Blanco FJ, Domenech N. (2012). Mitochondrial haplogroups H and J: Risk and protective factors for ischemic cardiomyopathy. PloS one 7:e44128
  • Freedman ML, Penney KL, Stram DO, Riley S, McKean-Cowdin R, Le Marchand L, Altshuler D, Haiman CA. (2005). A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk. Cancer Res 65:7516–22
  • Frost P, Jugessur A, Apold J, Heimdal K, Aloysius T, Eliassen AK, Fauske L, et al. (2005). Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway. Dis Mark 21:29–36
  • Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, et al. (2007). Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81:228–33
  • Ishikawa K, Takenaga K, Akimoto M, Koshikawa N, Yamaguchi A, Imanishi H, Nakada K, et al. (2008). ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis. Science (New York, NY) 320:661–4
  • Kulawiec M, Owens KM, Singh KK. (2009). Cancer cell mitochondria confer apoptosis resistance and promote metastasis. Cancer Biol Therapy 8:1378–85
  • Lu J, Sharma LK, Bai Y. (2009). Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis. Cell Res 19:802–15
  • Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, et al. (1994). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (New York, NY) 266:66–71
  • Napierala M, Dere R, Vetcher A, Wells RD. (2004). Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich's ataxia gene. J Biol Chem 279:6444–54
  • Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, et al. (1999). Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943–9
  • Pezzotti A, Kraft P, Hankinson SE, Hunter DJ, Buring J, Cox DG. (2009). The mitochondrial A10398G polymorphism, interaction with alcohol consumption, and breast cancer risk. PloS one 4:e5356
  • Salgado J, Gil C, Robles M, Gutiérrez C, Reyna C, García-Foncillas J. (2008). A characterization of genetic haplotypes in BRCA1 identifies linkage disequilibrium with novel polymorphism in intron 7. Gene Ther Mol Biol 12:175–80
  • Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, et al. (1997). BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. J Am Med Assoc 278:1242–50
  • Smith TM, Lee MK, Szabo CI, Jerome N, McEuen M, Taylor M, Hood L, King MC. (1996). Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Gen Res 6:1029–49
  • Soares P, Achilli A, Semino O, Davies W, Macaulay V, Bandelt HJ, Torroni A, Richards MB. (2010). The archaeogenetics of Europe. Curr Biol: CB 20:R174–83
  • Subramanian S, Madgula VM, George R, Mishra RK, Pandit MW, Kumar CS, Singh L. (2003). Triplet repeats in human genome: Distribution and their association with genes and other genomic regions. Bioinformatics (Oxford, England) 19:549–52
  • Subramanian S, Mishra RK, Singh L. (2003). Genome-wide analysis of Bkm sequences (GATA repeats): Predominant association with sex chromosomes and potential role in higher order chromatin organization and function. Bioinformatics (Oxford, England) 19:681–5
  • van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, et al. (2004). Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 365:28–32
  • van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, et al. (2003). Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Human Genet 72:804–11
  • Wallace DC. (2012). Mitochondria and cancer. Nature reviews. Cancer 12:685–98
  • Warburg O. (1930). The metabolism of tumours. London: Constable Co Ltd
  • Warburg O. (1956). On the origin of cancer cells. Science 123:309–14
  • Wiesbauer M, Meierhofer D, Mayr JA, Sperl W, Paulweber B, Kofler B. (2006). Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups. Electrophoresis 27:3864–8
  • Yu M. (2011). Generation, function and diagnostic value of mitochondrial DNA copy number alterations in human cancers. Life Sci 89:65–71
  • Yu M. (2012). Somatic mitochondrial DNA mutations in human cancers. Adv Clin Chem 57:99–138

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.