Non-invasive multi-cancer diagnosis using DNA hypomethylation of LINE-1 retrotransposons

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Michel, Marc | Heidary, Maryam | Mechri, Anissa | Silva, Kévin Da | Gorse, Marine | Dixon, Victoria | von Grafenstein, Klaus | Hego, Caroline | Rampanou, Aurore | Lamy, Constance | Kamal, Maud | Tourneau, Christophe Le | Séné, Mathieu | Bièche, Ivan | Reyes, Cecile | Gentien, David | Stern, Marc-Henri | Lantz, Olivier | Cabel, Luc | Pierga, Jean-Yves | Bidard, François-Clément | Azencott, Chloé-Agathe | Proudhon, Charlotte

Edité par CCSD -

The detection of circulating tumor DNA, which allows non-invasive tumor molecular profiling and disease follow-up, promises optimal and individualized management of patients with cancer. However, detecting small fractions of tumor DNA released when the tumor burden is reduced remains a challenge. We implemented a new highly sensitive strategy to detect base-pair resolution methylation patterns from plasma DNA and assessed the potential of hypomethylation of LINE-1 retrotransposons as a non-invasive multi-cancer detection biomarker. Resulting machine learning-based classifiers showed powerful correct classification rates discriminating healthy and tumor plasmas from 6 types of cancers in two independent cohorts (AUC = 88% to 100%, N = 747). This should lead to the development of more efficient non-invasive diagnostic tests adapted to all cancer patients, based on the universality of these factors. One-Sentence Summary LINE-1 retrotransposons hypomethylation is a sensitive and specific biomarker to detect multiple forms of cancer non-invasively.

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