Liquid biopsy for early cancer detection in hereditary cancer syndromes: Current evidence

Kuhlen M, Schmutz M, Metzler M, Claus R (2026)

Publication Type: Journal article, Review article

Publication year: 2026

Journal

Critical Reviews in Oncology Hematology Elsevier

Book Volume: 226

Article Number: 105475

DOI: 10.1016/j.critrevonc.2026.105475

Abstract

Hereditary cancer predisposition syndromes (CPS) confer high lifetime cancer risks with early onset and diverse tumor spectra, posing challenges for current intensive, organ-specific surveillance methods that carry risks of interval cancers, radiation exposure, and patient burden. Here we synthesize evidence on cell-free DNA (cfDNA)-based liquid biopsy approaches—including methylation, fragmentomics, copy-number, and mutation analyses—as minimally invasive adjuncts for early cancer detection in CPS. Data, primarily from Li-Fraumeni syndrome, Lynch syndrome, and neurofibromatosis type 1, demonstrate promising diagnostic performance, particularly with multimodal cfDNA assays that improve detection sensitivity and specificity. However, no randomized trials have yet confirmed clinical benefit. Ongoing studies aim to clarify optimal testing strategies, psychosocial impact, and cost-effectiveness. These findings suggest that cfDNA liquid biopsy holds potential to complement existing surveillance in hereditary cancer syndromes, but further validation is required before routine clinical implementation.

Authors with CRIS profile

Markus Metzler Professur für Kinder- und Jugendmedizin mit dem Schwerpunkt Pädiatrische Onkologie und Hämatologie

Involved external institutions

Universität Augsburg DE Germany (DE) Bayerisches Zentrum für Krebsforschung (BZKF) DE Germany (DE)

How to cite

APA:

Kuhlen, M., Schmutz, M., Metzler, M., & Claus, R. (2026). Liquid biopsy for early cancer detection in hereditary cancer syndromes: Current evidence. Critical Reviews in Oncology Hematology, 226. https://doi.org/10.1016/j.critrevonc.2026.105475

MLA:

Kuhlen, Michaela, et al. "Liquid biopsy for early cancer detection in hereditary cancer syndromes: Current evidence." Critical Reviews in Oncology Hematology 226 (2026).

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