Non-invasive multi-cancer diagnosis using DNA hypomethylation of LINE-1 retrotransposons - PaRis AI Research InstitutE Access content directly
Preprints, Working Papers, ... Year : 2024

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

Abstract

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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Dates and versions

hal-04453898 , version 1 (07-06-2024)

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Marc Michel, Maryam Heidary, Anissa Mechri, Kévin Da Silva, Marine Gorse, et al.. Non-invasive multi-cancer diagnosis using DNA hypomethylation of LINE-1 retrotransposons. 2024. ⟨hal-04453898⟩
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