Research team
Expertise
Janah Vandenhoeck conducts research on DNA methylation as a biomarker for the detection, classification, and monitoring of different cancer types. Her expertise focuses on the development and validation of sensitive molecular assays for methylation analysis in both tissue samples and liquid biopsies, including cfDNA from blood. She also works on methodological optimization for low-input DNA analysis and on translating epigenetic biomarker research into clinically applicable diagnostic applications in oncology.
Recurrent Chromosomal Junctions as Universal Biomarkers for Non-Invasive Detection of Pleural Mesothelioma.
Abstract
Pleural mesothelioma (PM) is an aggressive malignancy typically diagnosed at an advanced stage, resulting in poor prognosis. Early detection remains a major clinical challenge. Circulating tumor DNA (ctDNA) analysis offers a promising non-invasive approach, but current strategies rely on patient-specific tumor-informed sequencing, which is a very costly two-step process that limits population-wide screening. In recent whole-genome sequencing (WGS) studies, we identified the unexpected presence of recurrent structural variant (SV) junctions across independent PM samples. This discovery provides a basis for universal biomarkers, enabling affordable ctDNA testing with potentially high sensitivity. Such an assay could be a game changer in diagnosis of PM. This project aims to systematically map recurrent SV junctions using published WGS datasets and develop a multiplex cfDNA assay for their detection. Single-molecule molecular inversion probes (smMIPs) will be designed to capture these junctions in a high-throughput format, enabling sensitive and specific detection of SVs in cfDNA. The assay will be validated in PM tissue and plasma samples from PM patients, asbestos-exposed individuals, and healthy volunteers. By integrating multiple recurrent junctions into a single panel, we aim to establish a tumor-naïve, non-invasive screening tool for early PM detection. Successful implementation could revolutionize clinical practice by enabling accurate diagnosis and screening in at-risk populations.Researcher(s)
- Promoter: Vandenhoeck Janah
Research team(s)
Funding
- BOF
Project type(s)
- Research Project