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Genetic Alterations Involved in Immune Escape Mechanisms of Circulating Tumour Cells in Colorectal Carcinogenesis

Sharmin Aktar1,2,3, Matthew Masoudi1, Dilpreet Moti1

  • 1School of Medicine and Dentistry, Griffith University, Gold Coast, Queensland, Australia.

Cancer Medicine
|March 16, 2026
PubMed

Insights

Genetic alterations in circulating tumor cells (CTCs) help colorectal cancer (CRC) evade immune responses by affecting immune checkpoint molecules. Understanding these changes offers insights into CRC progression and potential targeted therapies.

Area of Science:

  • Oncology
  • Immunology
  • Genetics

Background:

  • Colorectal cancer (CRC) involves circulating tumor cells (CTCs) that utilize genetic alterations to evade the immune system.
  • Key driver genes (KRAS, BRAF, p53, MYC, APC, PTEN) are implicated in CRC immune evasion.
  • Immune checkpoint molecules (PD-1, PD-L1, PD-L2, CTLA-4, CD47) are influenced by these genetic changes, suppressing anti-tumor immunity.

Purpose of the Study:

  • To investigate the relationship between driver gene mutations in CTCs and the expression of immune checkpoint molecules.
  • To understand the clinical significance of these genetic alterations and their impact on CRC progression.
  • To explore the potential of targeting these genetic changes for improved CRC therapies.

Main Methods:

  • Analysis of genetic alterations in driver genes within circulating tumor cells (CTCs).
  • Assessment of immune checkpoint molecule expression in relation to specific genetic mutations.
  • Correlation of findings with clinical significance and CRC progression.

Main Results:

  • Driver gene mutations in CTCs influence the expression of key immune checkpoint molecules.
  • These alterations play a role in tumor immune escape mechanisms in colorectal cancer.
  • The study highlights the complex interplay between genetic mutations and immune response in CRC.

Conclusions:

  • Investigating genetic alterations in CTCs is crucial for understanding CRC immune escape.
  • CTCs harbor critical genetic changes that impact tumor-immune system interactions.
  • This research may lead to improved liquid biopsy applications and novel therapeutic strategies for colorectal cancer.
Keywords:
circulating tumour cellscolorectal cancerimmune escapeimmune surveillanceoncogenestumour suppressors

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