Pioneering a Tumor-Specific Methylation Atlas (TSMA) to Identify Tissue of Origin (TOO) in Multi-Cancer Early Detection

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• Create Date July 19, 2024
• Last Updated July 19, 2024

Background:

Cell free DNA (cfDNA)-based assays hold great potential in detecting early cancer signals. However, predicting the tissue-of-origin for multiple cancer types at an early stage remains challenging due to the low abundance of tumor- derived cfDNA and the confounding presence of various DNA components released from non- tumor sources.

Solutions:

1. DNA methylation has been proved an important epigenetic marker in cancer early detection context. Furthermore, these DNA methylation patterns are tissue-specific and remain stable during neoplastic transformation. An atlas of these tissue-specific methylation was constructed for five cancer types.
2. In this study, we investigated the application of artificial intelligence and methylation atlas to deconvolute cell types, with the goal of creating a model that can detect tumor origin in cfDNA samples for early cancer screening.