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Short history of 5-methylcytosine: from discovery to clinical applications
  1. Olga Taryma-Lesniak,
  2. Katarzyna Ewa Sokolowska,
  3. Tomasz Kazimierz Wojdacz
  1. Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland
  1. Correspondence to Dr Tomasz Kazimierz Wojdacz, Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Zachodniopomorskie, Poland; tomasz.wojdacz{at}


Covalent modifications of nucleotides in genetic material have been known from the beginning of the last century. Currently, one of those modifications referred to as DNA methylation, is impacting personalised medicine both as a treatment target and a biomarker source for clinical disease management. In this short review, we describe landmark discoveries that led to the elucidation of the DNA methylation importance in the cell’s physiology and clarification of its role as one of the major processes in disease pathology. We also describe turning points in the development of methodologies to study this modification, which ultimately resulted in the development of in-vitro diagnostic kits targeting disease related DNA methylation changes as biomarkers.

  • methods
  • diagnosis
  • neoplasms
  • biomarkers
  • tumor

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  • Handling editor Tahir S Pillay.

  • Contributors OTL and KES: performed the literature searches, drafted the manuscript. TKW: performed the literature searches, drafted the manuscript and coordinated editing of the manuscript.

  • Funding This work was financed by the Polish National Agency for Academic Exchange

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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