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ESMO 2023 | Clinical subtyping of cancer from blood based on comprehensive epigenomic profiling

Federica Di Nicolantonio, PhD, University of Torino, Turin, Italy, discusses a novel circulating tumor DNA (ctDNA) assay for profiling tumor-derived gene regulatory programs from patient plasma. This innovative approach measures histone modifications and DNA methylation, generating 1,085 genome-wide profiles across 435 samples. The assay demonstrates clinical validity by distinguishing cancer phenotypes based on gene regulatory profiles. The epigenomic profiling of plasma allows inference of diagnostic marker and drug target gene expression, providing functional readouts for targetable transcription factors. The study reveals insights into resistance mechanisms, such as AR gene enhancer activation in prostate cancer and neuroendocrine trans-differentiation. This groundbreaking research advances precision oncology by accessing clinically relevant information from plasma, presenting the largest epigenomic cell-free DNA dataset to date. This interview took place at the European Society for Medical Oncology (ESMO) 2023 Congress in Madrid, Spain.

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