Unveiling the genetic and epigenetic landscape of colorectal cancer: new insights into pathogenic pathways

• Published in: Medical oncology (Northwood, London, England) Vol. 40; no. 11; p. 334
• Main Authors: Postwala, Humzah, Shah, Yesha, Parekh, Priyajeet S., Chorawala, Mehul R.
• Format: Journal Article
• Language: English
• Published: New York Springer US 19.10.2023; Springer Nature B.V
• Subjects: Biomarkers; Colorectal cancer; DNA methylation; Epigenetics; Hematology; Internal Medicine; Medicine; Medicine & Public Health; Oncology; Pathogenesis; Pathology; Review Article; PI3K; Diagnostic biomarkers; Precision medicine; Colorectal cancer; Genetic alterations; mTOR pathway; Epigenetic modifications; β-catenin pathway; Akt; Wnt
• ISSN: 1559-131X; 1357-0560; 1559-131X
• DOI: 10.1007/s12032-023-02201-8

Colorectal cancer (CRC) is a complex disease characterized by genetic and epigenetic alterations, playing a crucial role in its development and progression. This review aims to provide insights into the emerging landscape of these alterations in CRC pathogenesis to develop effective diagnostic tools and targeted therapies. Genetic alterations in signaling pathways such as Wnt/β-catenin, and PI3K/Akt/mTOR are pivotal in CRC development. Genetic profiling has identified distinct molecular subtypes, enabling personalized treatment strategies. Epigenetic modifications, including DNA methylation and histone modifications, also contribute to CRC pathogenesis by influencing critical cellular processes through gene silencing or activation. Non-coding RNAs have emerged as essential players in epigenetic regulation and CRC progression. Recent research highlights the interplay between genetic and epigenetic alterations in CRC. Genetic mutations can affect epigenetic modifications, leading to dysregulated gene expression and signaling cascades. Conversely, epigenetic changes can modulate genetic expression, amplifying or dampening the effects of genetic alterations. Advancements in understanding pathogenic pathways have potential clinical applications. Identifying genetic and epigenetic markers as diagnostic and prognostic biomarkers promises more accurate risk assessment and early detection. Challenges remain, including validating biomarkers and developing robust therapeutic strategies through extensive research and clinical trials. The dynamic nature of genetic and epigenetic alterations necessitates a comprehensive understanding of their temporal and spatial patterns during CRC progression. In conclusion, the genetic and epigenetic landscape of CRC is increasingly being unraveled, providing valuable insights into its pathogenesis. Integrating genetic and epigenetic knowledge holds great potential for improving diagnostics, prognostics, and personalized therapies in CRC. Continued research efforts are vital to translate these findings into clinical practice, ultimately improving patient outcomes.