Detecting colorectal cancer using genetic and epigenetic biomarkers: screening and diagnosis

Yudith Annisa Ayu Rezkitha, Nur Syahadati Retno Panenggak, Maria Inge Lusida, Raissa Virgy Rianda, Isna Mahmudah, Aditya Doni Pradana, Tomohisa Uchida, Muhammad Miftahussurur

Research output: Contribution to journalReview articlepeer-review


Colorectal cancer (CRC) is one of the most frequent types of cancer, with high incidence rates and mortality globally. The extended timeframe for developing CRC allows for the potential screening and early identification of the disease. Furthermore, studies have shown that survival rates for patients with cancer are increased when diagnoses are made at earlier stages. Recent research suggests that the development of CRC, including its precancerous lesion, is influenced not only by genetic factors but also by epigenetic variables. Studies suggest epigenetics plays a significant role in cancer development, particularly CRC. While this approach is still in its early stages and faces challenges due to the variability of CRC, it shows promise as a potential method for understanding and addressing the disease. This review examined the current evidence supporting genetic and epigenetic biomarkers for screening and diagnosis. In addition, we also discussed the feasibility of translating these methodologies into clinical settings. Several markers show promising potential, including the methylation of vimentin (VIM), syndecan-2 (SDC2), and septin 9 (SEPT9). However, their application as screening and diagnostic tools, particularly for early-stage CRC, has not been fully optimized, and their effectiveness needs validation in large, multi-center patient populations. Extensive trials and further investigation are required to translate genetic and epigenetic biomarkers into practical clinical use. biomarkers, diagnostic biomarkers.

Original languageEnglish
Pages (from-to)4-14
Number of pages11
JournalJournal of medicine and life
Issue number1
Publication statusPublished - 1 Jan 2024


  • cancer
  • colorectal cancer
  • diagnostic biomarkers
  • epigenetic biomarkers
  • genetic biomarkers


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