Epigenetically inactivated RASSF1A as a tumor biomarker

Scientific paper - Original scientific paper

• Author: Dora Raos
• Author: Monika Ulamec
• Author: Ana Katušić Bojanac
• Author: Floriana Bulić-Jakuš
• Author: Davor Ježek
• Author: Nino Sinčić
• Author's institution: University of Zagreb; School of Medicine; (Department of Histology and Embryology)
• Author's institution: University of Zagreb; School of Medicine; (Department of Medical Biology)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Cytology, Histology and Embryology

Abstract (english)

RASSF1A, one of the eight isoforms of the RASSF1 gene, is a tumor suppressor gene that influences tumor initiation and development. In cancer, RASSF1A is frequently inactivated by mutations, loss of heterozygosity, and, most commonly, by promoter hypermethylation. Epigenetic inactivation of RASSF1A was detected in various cancer types and led to significant interest; current research on RASSF1A promoter methylation focuses on its roles as an epigenetic tumor biomarker. Typically, researchers analyzed genomic DNA (gDNA) to measure the amount of RASSF1A promoter methylation. Cell-free DNA (cfDNA) from liquid biopsies is a recent development showing promise as an early cancer diagnostic tool using biomarkers, such as RASSF1A. 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. We compared methylation frequencies of RASSF1A in gDNA and cfDNA in various cancer types. The weaknesses and strengths of these analyses are discussed. In conclusion, although the importance of RASSSF1A methylation to cancer has been established is included in several diagnostic panels, its diagnostic utility is still experimental.

• Keywords (english): Biomarkers, Tumor / genetics*; DNA Methylation; Epigenomics; Gene Expression Regulation, Neoplastic; Gene Silencing; Humans; Neoplasms / genetics*; Tumor Suppressor Proteins / genetics*
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Bosnian Journal of Basic Medical Sciences
• Numbering: vol. 21, no. 4, pp. 386-397
• p-ISSN: 1512-8601
• e-ISSN: 1840-4812
• DOI: https://doi.org/10.17305/bjbms.2020.5219
• URN:NBN: urn:nbn:hr:105:567170
• Publication: 2021-08-01
• Document URL: https://www.bjbms.org/ojs/index.php/bjbms/article/view/5219
• Type of resource: Text
• Access conditions: Open access
• Created on: 2022-02-04 10:42:23