4.3 Review

Epigenetically inactivated RASSF1A as a tumor biomarker

期刊

BOSNIAN JOURNAL OF BASIC MEDICAL SCIENCES
卷 21, 期 4, 页码 386-397

出版社

ASSOC BASIC MEDICAL SCI FEDERATION BOSNIA & HERZEGOVINA SARAJEVO
DOI: 10.17305/bjbms.2020.5219

关键词

RASSF1A; epigenetic alteration; DNA methylation; biomarker

资金

  1. European Union through the European Regional Development Fund
  2. Croatian Science Foundation

向作者/读者索取更多资源

RASSF1A, a tumor suppressor gene, is often inactivated in cancer through mutations and promoter hypermethylation. Current research focuses on its role as an epigenetic tumor biomarker.
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 RASSF/A promoter methylation. CPII-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 cONA 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 and is included in several diagnostic panels, its diagnostic utility is still experimental.

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