Skip to main content
SpringerLink
Log in

Fundamental Aspects of Epigenetic in Cancer

  • Chapter
  • First Online:
Epigenetics Territory and Cancer

  • 1310 Accesses

Abstract

The term epigenetics is defined as the interaction between genes and environment without an alteration of the DNA sequence . On molecular level epigenetics is based on the mechanisms of DNA methylation, RNA interference and histone modification (e.g. acetylation, methylation).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Adorno M, Sikandar S, Mitra SS, Kuo A, Nicolis Di Robilant B, Haro-Acosta V, Ouadah Y, Quarta M, Rodriguez J, Qian D, Reddy VM, Cheshier S, Garner CC, Clarke MF (2013) Usp16 contributes to somatic stem-cell defects in Down’s syndrome. Nature 501(7467):380-384. doi: 10.1038/nature12530

    Article  CAS  PubMed  Google Scholar 

  • Amor DJ, Halliday J (2008) A review of known imprinting syndroms and their association with assisted reproduction technologies. Hum Reprod 23:2826–2834

    Article  PubMed  Google Scholar 

  • Barr ML, Bertram EG (1949) A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 163:676–677

    Article  CAS  PubMed  Google Scholar 

  • Berger SL, Kouzarides T, Shiekhattar R, Shilatifard A (2009) An operational definition of epigenetics. Genes Dev 23:781–783

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Bird A, Taggart M, Frommer M, Miller OJ, Macleod D (1985) A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA. Cell 40:91–99

    Article  CAS  PubMed  Google Scholar 

  • Bock C (2009) Epigenetic biomarker development. Epigenomics 1:99–110

    Article  CAS  PubMed  Google Scholar 

  • Brady AF, Wataers CS, Pocha MJ, Brueton LA (2000) Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism. Clin Genet 58:142–146

    Article  CAS  PubMed  Google Scholar 

  • Brena RM, Costello JF (2010) The role of the epigenome in human cancers. In: Speicher MR et al (eds) Human genetics. Problems and approaches. Springer, Berlin

    Google Scholar 

  • Burrell RA, Swanton C (2014) The evolution of the unstable cancer genome. Curr Opin Genet Dev 24:61–67.

    Google Scholar 

  • Busson-Le Coniat M, Salomon-Nguyen, Mozziconacci MJ et al (1999) Fluorescence in situ hybridization analysis of chromosome 1 abnormalities in hematopoietic disorders: rearrangements of DNA satellite II and new recurrent translocations. Leukemia 13:1975–1981

    Article  CAS  PubMed  Google Scholar 

  • Chandler LA, Jones PA (1988) Hypomethylation of DNA in the regulation of gene expression. Dev Biol 5:335-349

    CAS  Google Scholar 

  • Choufani S, Shuman C, Weksberg R (2013) Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 163C:131–140

    Article  PubMed  Google Scholar 

  • Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH et al (2010) Mechanisms of mosaicism, chimerism and uniparental dissomy indentified by single nucleotide polymorphism array analysis. Hum Mol Genet 19:1263–1975

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Cooper DN (1983) Eukaryotic DNA methylation. Hum Genet 64:315–333

    Article  CAS  PubMed  Google Scholar 

  • Cooper DN, Taggart MH, Bird AP (1983) Unmethylated domains in vertebrate DNA. Nucleic Acids Res 11:647–658

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Cremer T (2010) Von der Genetik zur Epigenetik und Epigenomforschung—Essay zur Geschichte der Vererbungsforschung und zur Zukunft der prädiktiven Medizin. In: Doerfler W, Ulrich HG, Böhm P (eds) Medicine at the interface between science and ethics, Nova Acta Leopoldina, Bd 98. Deutsche Akademie der Naturforscher Leopoldina, Halle pp 87–165

    Google Scholar 

  • Delaval K, Wagschal A, Feil R (2006) Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays 28:453–459

    Article  CAS  PubMed  Google Scholar 

  • Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E et al (2005) Mosaic tetrasomy 14pter-q13due to a supernumerary isodicentric derivate of proximal chromosome 14q. Am J Med Genet 134A:305–308

    Article  Google Scholar 

  • Eggermann TB, Horsthemke B et al. (2013) Molekulargenetische Diagnostik von Imprintingerkrankungen. Med Genet 25:1–8

    Google Scholar 

  • Engel E, Antonarakis SE (2002) Genomic imprinting and uniparentel disomy in medicine. Clinical and molecular aspects. Wiley-Liss, New York

    Google Scholar 

  • Esteller M (2008) Epigenetics in cancer. N Engl J Med 358:1148–1159

    Article  CAS  PubMed  Google Scholar 

  • Galetzka D, Hansmann T, El Hajj N, Weis E, Irmscher B, Ludwig M et al (2012) Monocygotic twins discordant for constitutive BRCA1 promotor, methylation, childhood cancer and secondary cancer. Epigenetics 7:47–54

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H (2005) First report of a partial trisomy 3q12-q23 de novo-FISH breakpoint determination and phenotypic characterization. Eur J Med Genet 49:225–234

    Article  PubMed  Google Scholar 

  • Gardner RJM, Sutherland GR, Shaffer LG (2012) Chromosome abnormalities and genetic counselling, 4th edn. Oxford University Press, Oxford

    Google Scholar 

  • Gesetz über genetische Untersuchungen beim Menschen (Gendiagnostikgesetz GenDG) (2009). Bundesgesetzblatt 2009, Teil 1. Bonn. http://www.gesetze-im-internet.de/gendg/index.html

  • Gesetz über genetische Untersuchungen bei Menschen (Gendiagnostikgesetz - GenDG) Gendiagnostikgesetz vom 31. Juli 2009 (BGBl. I S. 2529, 3672), das durch Artikel 2 Absatz 31 u. Artikel 4 Absatz 18 des Gesetzes vom 7. August 2013 (BGBl. I S. 3154) geändert worden ist”

    Google Scholar 

  • Haaf T (2006) Methylation dynamics in the early mammalian embryo: implications of genome reprogramming defects for development. Curr Top Microbiol Immunol 310:13–22

    CAS  PubMed  Google Scholar 

  • Haaf T, Schmid M (1991) Chromosome topology in mammalian interphase nuclei. Exp Cell Res 192:325–332

    Article  CAS  PubMed  Google Scholar 

  • Hastings R (2012) A common European framework for quality assessment for constitutional, acquired and molecular cytogenetic investigations. Eur Cytogenet Assoc Newsl 30:11–19

    Google Scholar 

  • Horsthemke B (2010) Mechanisms of imprint dysregulation. Am J Med Genet C Semin Med Genet 154C:321–328

    Article  CAS  PubMed  Google Scholar 

  • Jacobs KB, Yeager M, Zhou W, Wacholder S, Wang Z, Rodriguez-Santiago B et al (2012) Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet 44:651–658

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Jiang J, Jing Y, Cost GJ, Chiang JC, Kolpa HJ, Cotton AM, Carone DM, Carone BR, Shivak DA, Guschin DY, Pearl JR, Rebar EJ, Byron M, Gregory PD, Brown CJ, Urnov FD, Hall LL, Lawrence JB (2013) Translating dosage compensation to trisomy 21. Nature 500(7462):296–300

    Article  CAS  PubMed  Google Scholar 

  • Kacem S, Feil R (2009) Chromatin mechanisms in genomic imprinting. Mamm Genome 20:544–556

    Article  CAS  PubMed  Google Scholar 

  • Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68:820–823

    Article  PubMed Central  PubMed  Google Scholar 

  • Lyon MF (1961) Geneaction in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372–373

    Article  CAS  PubMed  Google Scholar 

  • Lyon MF (1974) Mechanisms and evolutionary origins of variable X-chromosome activity in mammals. Proc R Soc Lond B 187:243–268

    Article  CAS  PubMed  Google Scholar 

  • Mai S (2013) The 3D nuclear organization of the interphase nucleus in nirmal, immortalized and tumor cells. Chromosome Res 21:11

    Google Scholar 

  • McGranahan N, Burrell RA, Endesfelder D, Novelli MR, Swanton C (2012) Cancer chromosomal instability: therapeutic and diagnostic Mallenges. EMBO Rep 13:528–538

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Mc Grath J, Solter D (1983) Nuclear transplantation in mouse embryos. J Exp Zool 228:355–362

    Article  CAS  Google Scholar 

  • Miller OJ, Therman E (2001) Human chromosomes, 4th edn. Springer, Heidelberg

    Book  Google Scholar 

  • Molenaar JJ, Koster J, Zwijnenburg DA, van Sluis P, Valentijn LJ, van der Ploeg I et al (2012) Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature 483:589–593

    Article  CAS  PubMed  Google Scholar 

  • Müller J, Ritzén EM, Ivarsson SA, Rajpert-De Meyts E, Norjavaara E, Skakkebaek NE (2009) Management of males with 46,X/46,XY gonadal dysgenesis. Horm Res 52:11–14

    Google Scholar 

  • Neves-Costa A, Will WR, Vetter AT, Miller JR, Varga-Weisz P (2009) The SNF-2 family member Fun 30 promotes gene silencing in heterochromatic loci. PloS One 4(12):e8111

    Article  PubMed Central  PubMed  Google Scholar 

  • Propping P (2010) Prädiktive genetische Diagnostik: Möglichkeiten, Grenzen und Zukunft. Vortrag. Bundesministerium für Bildung und Forschung, Bonn

    Google Scholar 

  • Qiu J (2006) Epigenetics: unfinished symphony. Nature 11:143–145

    Google Scholar 

  • Quante T (2012) Mutant p53 is a transcriptional CO-factor that binds to G-rich regulatory regions of active genes and generates transcriptional plasticity. 43rd Annual conference of the German Genetics Society and GRK 143. September. Essen

    Google Scholar 

  • Reik W, Walter J (2001) Genomic imprinting: parental influence on the genome. Nat Rev Genet 2:21–32

    Article  CAS  PubMed  Google Scholar 

  • Richtlinien zur prädiktiven genetischen Diagnostik (2003) Bekanntmachungen: Richtlinien zur prädiktiven genetischen Diagnostik (verabschiedet vom Vorstand der Bundesärztekammer). Dtsch Ärztebl 100:1297–1305

    Google Scholar 

  • Satgé D, Sommelet D, Geneix A, Nishi M, Malet P, Vekemans M (1998) A tumor profile in Down syndrome. Am J Med Genet 78:207–216

    Article  PubMed  Google Scholar 

  • Saxonov S, Berg P, Brutlag DL (2006) A genome-wide analysis of CpG dinucleotides in the human genome distinguishes two distinct classes of promoters. Proc Natl Acad Sci U S A 103:1412–1417

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Schüler HM, Schwanitz G (2004) Das 45,X/46,XY-Mosaik in der Pränataldiagnostik—Diagnostisches Vorgehen, Phänotyp-Analyse und Prognose. Med Genet 16:438–441

    Google Scholar 

  • Schwanitz G, Raff R (2005) Application of specific cytologic, cytogenetic and molecular-cytogenetic techniques for the characterization of solid tumors. Rocz Akad Med Bialymst 50:91–96

    CAS  PubMed  Google Scholar 

  • Shaffer LG et al (eds) (2013) ISCN An international system for human cytogenetic nomenclature. Cytogenet Genome Res VI:1–40

    Google Scholar 

  • Tollefsbol T (ed) (2011) Handbook of epigenetics. The new molecular and medical genetics. Elsevier, Amsterdam

    Google Scholar 

  • Valle L, Cascón A, Melchor L, Otero I, Rodríguez-Perales S, Sánchez L et al (2005) About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1, q24.23) family. Eur J Hum Genet 13:570–578

    Article  CAS  PubMed  Google Scholar 

  • Varrault A, Gueydan C, Delalbre A, Bellmann A, Houssami S, Aknin C et al (2006) Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell 11:711–722

    Article  CAS  PubMed  Google Scholar 

  • Wark L, Danescu A, Natarajan S, Zhu X, Cheng SY, Hombach-Klonisch S et al. (2013) Three dimensional (3D) telomere dynamics in follicular thyroid cancer. Thyroid 24(2):296–304 (PMID: 23819464)

    Article  PubMed  Google Scholar 

  • Wegner RD (ed) (1999) Diagnostic cytogenetics. Springer, Berlin

    Book  Google Scholar 

  • Zhang TY, Hellstrom IC, Bagot RC, Wen X, Diorio J, Meaney MJ (2010) Maternal care and DNA methylation of a glutamic acid decarboxylase 1 promoter in rat hippocampus. J Neurosci 30:13130–13137

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Humangenetik RWTH, Aachen, Germany

    Thomas Eggermann

  2. Institut für Pathologie, Universität Gießen, Gießen, Germany

    Ulrike Gamerdinger

  3. Institut für Humangenetik UKB, Sigmund-Freud-Str. 25, 53125, Bonn, Germany

    Prof. Dr. Gesa Schwanitz

Authors
  1. Thomas Eggermann
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ulrike Gamerdinger
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Prof. Dr. Gesa Schwanitz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Gesa Schwanitz .

Editor information

Editors and Affiliations

  1. Tehran University of Medical Sciences, Department of Medical Genetics School Of Medicine, Tehran, Iran

    Parvin Mehdipour

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media Dordrecht

About this chapter

Cite this chapter

Eggermann, T., Gamerdinger, U., Schwanitz, G. (2015). Fundamental Aspects of Epigenetic in Cancer. In: Mehdipour, P. (eds) Epigenetics Territory and Cancer. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-9639-2_1

Download citation

Publish with us

Policies and ethics

Search

Navigation