Epigenetically inactivated RASSF1A as a tumor biomarker

  • Dora Raos Department of Medical Biology, University of Zagreb School of Medicine, Zagreb, Croatia; University of Zagreb School of Medicine, Scientific Group for Research on Epigenetic Biomarkers, Zagreb, Croatia; Scientific Centre of Excellence for Reproductive and Regenerative Medicine, University of Zagreb School of Medicine, Zagreb, Croatia https://orcid.org/0000-0001-7507-0394
  • Monika Ulamec University of Zagreb School of Medicine, Scientific Group for Research on Epigenetic Biomarkers, Zagreb, Croatia; Scientific Centre of Excellence for Reproductive and Regenerative Medicine, University of Zagreb School of Medicine, Zagreb, Croatia; Sestre milosrdnice University Hospital Center, Ljudevit Jurak Clinical Department of Pathology and Cytology, Zagreb, Croatia; Department of Pathology, University of Zagreb School of Dental Medicine and School of Medicine, Zagreb, Croatia, Croatia https://orcid.org/0000-0002-4843-8154
  • Ana Katusic Bojanac Department of Medical Biology, University of Zagreb School of Medicine, Zagreb, Croatia; Scientific Centre of Excellence for Reproductive and Regenerative Medicine, University of Zagreb School of Medicine, Zagreb, Croatia https://orcid.org/0000-0002-9078-4966
  • Floriana Bulic-Jakus University of Zagreb School of Medicine, Department of Medical Biology, Zagreb, Croatia https://orcid.org/0000-0002-5538-4692
  • Davor Jezek University of Zagreb School of Medicine, Department of Histology and Embryology, Zagreb, Croatia https://orcid.org/0000-0002-1528-5462
  • Nino Sincic University of Zagreb School of Medicine, Department of Medical Biology, Zagreb, Croatia https://orcid.org/0000-0003-2584-6654
Keywords: RASSF1A, epigenetic alteration, DNA methylation, biomarkers

Abstract

RASSF1A represents one of the eight isoforms of the RASSF1 gene. RASSF1A is a tumor suppressor gene whose inactivation influences tumor initiation and development. In cancer, RASSF1A is frequently inactivated by mutations, loss of heterozygosity and, most commonly, by promoter hypermethylation. As epigenetic inactivation of RASSF1A was detected in various cancer types, it was extensively investigated and nowadays, the research on RASSF1A promoter methylation proceeds in the light of an epigenetic tumor biomarker. Analyses of DNA methylation of genes involved in carcinogenesis such as RASSF1A are currently done mostly on genomic DNA (gDNA). Simultaneously, cell-free DNA (cfDNA) from liquid biopsies has lately been developed as an early cancer diagnostic tool.  This review discusses the evidence on aberrantly methylated RASSF1A in gDNA and cfDNA from different cancer types and its utility for early cancer diagnosis, prognosis, and surveillance. Furthermore, methylation frequencies of RASSF1A in gDNA and cfDNA were compared in various cancer types. The weaknesses and strengths of the investigations mentioned above are discussed. In conclusion, although the importance of RASSSF1A methylation in relation to cancer was established, and it became included in several diagnostic panels, the evidence of its diagnostic utility is still experimental and not yet implemented in standard clinical health care.

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Epigenetically inactivated RASSF1A as a tumor biomarker
Published
2020-11-11
How to Cite
1.
Raos D, Ulamec M, Katusic BojanacA, Bulic-JakusF, Jezek D, Sincic N. Epigenetically inactivated RASSF1A as a tumor biomarker. Bosn J of Basic Med Sci [Internet]. 2020Nov.11 [cited 2020Dec.1];. Available from: https://www.bjbms.org/ojs/index.php/bjbms/article/view/5219
Section
Reviews

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