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ATAC-Seq Optimization for Cancer Epigenetics Research
Published on: June 30, 2022
Epigenetics in renal cell cancer: mechanisms and clinical applications
Sophie C Joosten1, Kim M Smits1,2, Maureen J Aarts1
1Division of Medical Oncology, GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands.
Abstract:
Renal cell carcinoma (RCC) is characterized by an infrequent number of somatic mutations. By contrast, epigenetic aberrations are commonly found in RCC, indicating that epigenetic reprogramming is an important event in RCC development. Epigenetic alterations comprise several different aberrations, such as changes in histone modifications, DNA methylation, and microRNA levels, and occur in the most important signalling pathways in RCC, such as the von Hippel-Lindau disease tumour suppressor (VHL)-hypoxia-inducible factor (HIF) pathway, the WNT-β-catenin pathway, and pathways involved in epithelial-mesenchymal transition. Owing to their involvement in these pathways and frequent occurrence in RCC, epigenetic alterations are regarded as potential biomarkers for the early detection of disease and for prediction of prognosis and treatment response. In addition, most of these alterations are potentially reversible, so they also provide new targets for therapy. At the moment, epigenetic biomarkers for RCC are not being used in clinical practice, but targeted epigenetic therapies are under investigation. Understanding the extent of epigenetic changes occurring in RCC and the mechanisms by which they influence disease progression and treatment response, as well as knowledge of current research on biomarkers and treatments, is crucial to successful clinical translation of epigenetics in RCC.
Insights
Epigenetic aberrations are common in renal cell carcinoma (RCC) and are key to its development. These changes offer potential biomarkers for early detection and new therapeutic targets for this cancer.
Area of Science:
- Oncology
- Epigenetics
- Molecular Biology
Background:
- Renal cell carcinoma (RCC) exhibits few somatic mutations but frequent epigenetic aberrations.
- Epigenetic reprogramming plays a crucial role in RCC development and progression.
- Alterations include DNA methylation, histone modifications, and microRNA changes impacting key pathways.
Purpose of the Study:
- To highlight the significance of epigenetic alterations in RCC.
- To explore their potential as biomarkers for early detection, prognosis, and treatment response.
- To discuss their role as reversible therapeutic targets.
Main Methods:
- Review of current literature on epigenetic alterations in RCC.
- Analysis of epigenetic changes in key signaling pathways (VHL-HIF, WNT, EMT).
- Examination of the clinical implications of epigenetic biomarkers and therapies.
Main Results:
- Epigenetic alterations are prevalent in RCC, affecting critical signaling pathways.
- These alterations are associated with disease progression and treatment outcomes.
- Most epigenetic changes are potentially reversible, suggesting therapeutic potential.
Conclusions:
- Epigenetic alterations are central to RCC pathogenesis and offer promising biomarker and therapeutic opportunities.
- Clinical translation requires a deeper understanding of their mechanisms and current research.
- While not yet in clinical practice, targeted epigenetic therapies are under investigation for RCC.
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